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Pruritus

MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Synonym: Itchy skin
SNOMED CT: Pruritic disorder (279333002); Itching (418290006); Itching of skin (418363000); Itch (418290006); Itchy (418290006); Pruritus (418363000); Itch of skin (424492005); Pruritus of skin (279333002); Pruritus - disorder (279333002); Pruritic dermatitis (279333002)
 
HPO: HP:0000989

Definition

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. [from HPO]

Conditions with this feature

Primary erythromelalgia
MedGen UID:
8688
Concept ID:
C0014805
Disease or Syndrome
SCN9A neuropathic pain syndromes (SCN9A-NPS) comprise SCN9A erythromelalgia (EM), SCN9A paroxysmal extreme pain disorder (PEPD), and SCN9A small fiber neuropathy (SFN). SCN9A-EM is characterized by recurrent episodes of bilateral intense, burning pain, and redness, warmth, and occasionally swelling. While the feet are more commonly affected than the hands, in severely affected individuals the legs, arms, face, and/or ears may be involved. SCN9A-PEPD is characterized by neonatal or infantile onset of autonomic manifestations that can include skin flushing, harlequin (patchy or asymmetric) color change, tonic non-epileptic attacks (stiffening), and syncope with bradycardia. Later manifestations are episodes of excruciating deep burning rectal, ocular, or submandibular pain accompanied by flushing (erythematous skin changes). SCN9A-SFN is characterized by adult-onset neuropathic pain in a stocking and glove distribution, often with a burning quality; autonomic manifestations such as dry eyes, mouth, orthostatic dizziness, palpitations, bowel or bladder disturbances; and preservation of large nerve fiber functions (normal strength, tendon reflexes, and vibration sense).
Keratosis follicularis
MedGen UID:
5956
Concept ID:
C0022595
Disease or Syndrome
Darier-White disease (DAR), also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities (Sakuntabhai et al., 1999). Onset is usually before the third decade, and penetrance is complete in adults, although expressivity is variable. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the symptoms. Darier disease never remits, but oral retinoids may reduce hyperkeratosis. Neuropsychiatric abnormalities, including mild mental retardation and epilepsy, have been described in association with Darier disease in a few families (Burge and Wilkinson, 1992); whether this is an association based on pleiotropism of the mutant gene or reflects coincidence is not clear. Histologic findings are (1) mild nonspecific perivascular infiltration in the dermis; (2) dermal villi protruding into the epidermis; (3) suprabasal detachment of the spinal layer leading to the formation of lacunae containing acantholytic cells; (4) in the more superficial epidermis, dyskeratotic round epidermal cells ('corps ronds'), the most distinctive feature; and (5) in the stratum corneum, 'grains' that resemble parakeratotic cells embedded in a hyperkeratotic horny layer. Electron microscopy reveals loss of desmosomal attachments, perinuclear aggregations of keratin filaments, and cytoplasmic vacuolization. Ultrastructural and immunologic studies suggest the disease results from an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion.
Mycosis fungoides
MedGen UID:
7771
Concept ID:
C0026948
Neoplastic Process
Mycosis fungoides is a malignant T-cell lymphoma of the skin, first reported (and named) by Alibert (1835). Sezary syndrome is a leukemic variant of mycosis fungoides defined by erythroderma with greater than 80% of the skin showing redness, adenopathy and greater than 1,000 circulating Sezary cells/microliter with a CD4+CD26- or CD4+CD7- phenotype. Sezary cells have a type 2 helper T cell cytokine profile. Sezary syndrome has a median overall survival time of only 2.4 years in patients with Sezary cells at a density of greater than 10,000 cells/microliter or 5.4 years in patients with 1,000-10,000 Sezary cells/microliter. Mycosis fungoides and Sezary syndrome are the most common cutaneous T-cell lymphomas. Sezary syndrome can arise de novo or can appear following years of chronic mycosis fungoides. Both are thought to arise from clonal expansion of CD4+ helper T cells responding to chronic antigen stimulation (summary by Wang et al., 2015).
Idiopathic hypereosinophilic syndrome
MedGen UID:
61525
Concept ID:
C0206141
Disease or Syndrome
PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.\n\nAnother characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood.\n\nSome people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma.\n\nPDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.
Autosomal dominant lamellar ichthyosis
MedGen UID:
98486
Concept ID:
C0432304
Congenital Abnormality
Autosomal dominant lamellar ichthyosis (ADLI) is characterized by onset at birth or in the early neonatal period. Patients have large dark scales over the entire body, which are more prominent on the extremities, and palmoplantar keratoderma is present. Some patients experience mild erythema and/or moderate itching. Absence of sweating in severely affected areas has been reported (Boyden et al., 2020). Traupe et al. (1984) reported a large family of German descent (East Prussia) in which 5 individuals over 3 generations exhibited congenital lamellar ichthyosis that was evident at birth. The 8-year-old proband, her 27-year-old mother, and 52-year-old maternal grandfather exhibited large dark-brown scales over most of the body, including the palms and soles, with relative sparing of the face, anterior chest, and abdomen. The hyperkeratotic skin appeared lichenified on the back of the hands and feet as well as on the wrists, knees, and ankles. There was no history of erythema or blistering. The proband's teeth showed severe caries, but hair was normal. Her 13-month-old brother showed large translucent scales over the entire body, with relative sparing of the diaper area, especially the buttocks. He had 2 circumscribed erythematous patches on his legs, and experienced severe itching. The mother's deceased sister was also reported to have been affected. Histopathologic analysis of severely affected skin from the proband and her mother showed both orthokeratosis and parakeratosis, associated with a marked increase in the granular layer. The authors designated the disorder 'autosomal dominant lamellar ichthyosis (ADLI).' Kolde et al. (1985) described the ultrastructural characteristics of affected skin from the mother and daughter originally reported by Traupe et al. (1984). There were slightly enlarged nuclei that sometimes showed prominent nucleoli, an increased number of mitochondria, and numerous free ribosomes in the cells of the malpighian layer. The widened granular layer also contained numerous mitochondria, and nucleated keratinocytes were found even in the uppermost transforming keratinocytes. Kolde et al. (1985) noted that in contrast to other ichthyoses, there was a prominent transformation zone between the stratum granulosum and corneum, consisting of up to 6 cell layers that reflected the structural and biochemical conversion of fully developed granular cells into horny cells. The authors suggested that ADLI might serve as a model for the study of cornification in humans. Williams and Elias (1986) concurred that the family described by Traupe et al. (1984) with affected members in 3 generations had an autosomal dominant form of 'lamellar' ichthyosis and mentioned a similar family of their own. Larregue et al. (1986) briefly described one 3-generation family and five 2-generation families with lamellar ichthyosis. The disorder was severe in these families and was accompanied by a collodion membrane at birth. Melnik et al. (1989) concluded that the pattern of lipids in the scales, as demonstrated by sequential high-performance thin-layer chromatography, differs from that of the erythrodermic and nonerythrodermic variants of autosomal recessive lamellar ichthyosis. Boyden et al. (2020) studied 13 patients in 4 families segregating autosomal dominant lamellar ichthyosis and mutations in the ASPRV1 gene, including the 3-generation German family (kindred 630) originally reported by Traupe et al. (1984). The affected individuals exhibited a consistent phenotype, with all presenting at birth or within the first months of life with scaling involving the entire body, including the flexures, palms, and soles. None had collodion membrane. Scales were large and plate-like, and most prominent on the arms and legs. Erythema was absent or mild. Scaling improved, but did not completely resolve, during warmer weather. Affected individuals reported an inability to perspire when scaling was severe. Palmoplantar keratoderma was present, with prominent scaling and accentuation of creases. Some patients reported moderate itch. Histology showed acanthosis, compact orthohyperkeratosis, and a slightly expanded granular layer.
Pretibial dystrophic epidermolysis bullosa
MedGen UID:
98154
Concept ID:
C0432321
Congenital Abnormality
Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.
Reynolds syndrome
MedGen UID:
450547
Concept ID:
C0748397
Disease or Syndrome
An autoimmune disorder characterized by the association of primary biliary cirrhosis with limited cutaneous systemic sclerosis. Onset occurs between 30-65 years. Occurs sporadically, but rare familial cases with an unknown inheritance pattern have been observed. There is no cure and management is mainly supportive.
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Dermatitis herpetiformis, familial
MedGen UID:
371361
Concept ID:
C1832586
Disease or Syndrome
Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone.
Autosomal recessive congenital ichthyosis 11
MedGen UID:
332073
Concept ID:
C1835851
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).
Ichthyosis prematurity syndrome
MedGen UID:
324839
Concept ID:
C1837610
Disease or Syndrome
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe LI with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome.
Hypotrichosis 6
MedGen UID:
335812
Concept ID:
C1842839
Disease or Syndrome
Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006). Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis LAH2 (HYPT7; 604379) is caused by mutation in the LIPH gene (607365) on chromosome 3q27, and LAH3 (HYPT8; 278150) is caused by mutation in the LPAR6 (P2RY5) gene (609239) on chromosome 13q14.12-q14.2. See also hypotrichosis and recurrent skin vesicles (613102), which is caused by mutation in the DSC3 gene (600271).
Peeling skin syndrome 1
MedGen UID:
336530
Concept ID:
C1849193
Disease or Syndrome
Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985). Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin Syndrome Peeling skin syndrome-2 (PSS2; 609796), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (603805) on chromosome 15q15. Peeling skin syndrome-3 (PSS3; 616265) is caused by mutation in the CHST8 gene (610190) on chromosome 19q13. Peeling skin syndrome-4 (PSS4; 607936) is caused by mutation in the CSTA gene (184600) on chromosome 3q21. Peeling skin syndrome-5 (PSS5; 617115) is caused by mutation in the SERPINB8 gene (601697) on chromosome 18q22. PSS6 (618084) is caused by mutation in the FLG2 gene (616284) on chromosome 1q21.
Cholestasis with gallstone, ataxia, and visual disturbance
MedGen UID:
347812
Concept ID:
C1859161
Disease or Syndrome
Dermatitis, atopic
MedGen UID:
350353
Concept ID:
C1864155
Disease or Syndrome
Progressive familial intrahepatic cholestasis type 3
MedGen UID:
356333
Concept ID:
C1865643
Disease or Syndrome
The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma.\n\nMost people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.\n\nIn addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood.\n\nThere are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause.\n\nSigns and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).\n\nProgressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals.
Pruritus, hereditary localized
MedGen UID:
356792
Concept ID:
C1867499
Disease or Syndrome
Benign recurrent intrahepatic cholestasis type 2
MedGen UID:
435857
Concept ID:
C2608083
Disease or Syndrome
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.
Erythrocytosis, familial, 4
MedGen UID:
435867
Concept ID:
C2673187
Disease or Syndrome
Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; 133170). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100).
Arthrogryposis, renal dysfunction, and cholestasis 2
MedGen UID:
462022
Concept ID:
C3150672
Disease or Syndrome
Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).
Amyloidosis, primary localized cutaneous, 2
MedGen UID:
462754
Concept ID:
C3151404
Disease or Syndrome
Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009). For a general description and a discussion of genetic heterogeneity of PLCA, see 105250.
Familial cold autoinflammatory syndrome 3
MedGen UID:
482544
Concept ID:
C3280914
Disease or Syndrome
Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).
Progressive familial intrahepatic cholestasis type 2
MedGen UID:
483742
Concept ID:
C3489789
Disease or Syndrome
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.
Cholestasis, intrahepatic, of pregnancy, 1
MedGen UID:
762759
Concept ID:
C3549845
Disease or Syndrome
Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy See also ICP3 (614972), caused by mutation in the ABCB4 gene (171060).
Cholestasis, intrahepatic, of pregnancy, 3
MedGen UID:
767155
Concept ID:
C3554241
Disease or Syndrome
Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Women with ICP are also susceptible to oral contraceptive-induced cholestasis (OCIC). Ursodeoxycholic acid (UDCA) is an effective treatment for conditions caused by ABCB4 mutations (summary by Pasmant et al., 2012). Mutation in the ABCB4 gene accounts for about 15% of ICP cases (summary by Ziol et al., 2008). For a discussion of genetic heterogeneity of ICP, see ICP1 (147480).
Congenital reticular ichthyosiform erythroderma
MedGen UID:
777141
Concept ID:
C3665704
Disease or Syndrome
Ichthyosis with confetti (IWC), also known as congenital reticular ichthyosiform erythroderma (CRIE), is a rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis (summary by Krunic et al., 2003).
Hereditary sensory and autonomic neuropathy type 7
MedGen UID:
816212
Concept ID:
C3809882
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type VII (HSAN7) is characterized by congenital absence of pain sensation resulting in recurrent injuries and self-inflicted wounds. Severe pruritis, intestinal dysmotility, and hyperhydrosis may be present (Woods et al., 2015; Salvatierra et al., 2018). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400).
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
MedGen UID:
862830
Concept ID:
C4014393
Disease or Syndrome
Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.\n\nKeratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.\n\nCardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.
Epidermolysis bullosa simplex with nail dystrophy
MedGen UID:
906476
Concept ID:
C4225309
Disease or Syndrome
Autosomal recessive generalized intermediate epidermolysis bullosa simplex 5D (EBS5D) is characterized by generalized skin blistering that heals with scarring and hyperpigmentation. Nail dystrophy is severe. Mucous membranes, heart, and muscle are spared (Gostynska et al., 2015). For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760).
Isolated neonatal sclerosing cholangitis
MedGen UID:
1393230
Concept ID:
C4479344
Disease or Syndrome
Neonatal sclerosing cholangitis (NSC) is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).
Ichthyosis, congenital, autosomal recessive 14
MedGen UID:
1620129
Concept ID:
C4539754
Congenital Abnormality
Amyloidosis, primary localized cutaneous, 1
MedGen UID:
1639046
Concept ID:
C4551501
Disease or Syndrome
In some affected individuals, the patches have characteristics of both lichen and macular amyloidosis. These cases are called biphasic amyloidosis.\n\nNodular amyloidosis is characterized by firm, raised bumps (nodules) that are pink, red, or brown. These nodules often occur on the face, torso, limbs, or genitals and are typically not itchy.\n\nIn macular amyloidosis, the patches are flat and dark brown. The coloring can have a lacy (reticulated) or rippled appearance, although it is often uniform. Macular amyloidosis patches are most commonly found on the upper back, but they can also occur on other parts of the torso or on the limbs. These patches are mildly itchy.\n\nIn all forms of PLCA, the abnormal patches of skin usually arise in mid-adulthood. They can remain for months to years and may recur after disappearing, either at the same location or elsewhere. Very rarely, nodular amyloidosis progresses to a life-threatening condition called systemic amyloidosis, in which amyloid deposits accumulate in tissues and organs throughout the body.\n\nLichen amyloidosis is characterized by severely itchy patches of thickened skin with multiple small bumps. The patches are scaly and reddish brown in color. These patches usually occur on the shins but can also occur on the forearms, other parts of the legs, and elsewhere on the body.\n\nPrimary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave-like projections (dermal papillae) between the top two layers of skin (the dermis and the epidermis). The primary feature of PLCA is patches of skin with abnormal texture or color. The appearance of these patches defines three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.
Progressive familial intrahepatic cholestasis type 1
MedGen UID:
1645830
Concept ID:
C4551898
Disease or Syndrome
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.
Benign recurrent intrahepatic cholestasis type 1
MedGen UID:
1637492
Concept ID:
C4551899
Disease or Syndrome
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.
Amyloidosis, primary localized cutaneous, 3
MedGen UID:
1640641
Concept ID:
C4554421
Disease or Syndrome
Amyloidosis cutis dyschromica (ACD), a rare form of primary localized cutaneous amyloidosis, is a pigmentary disorder in which keratinocyte-derived amyloid is deposited in the skin. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. ACD can be distinguished from other conditions with similar clinical findings by a skin biopsy in which amyloid deposition in the papillary dermis is seen. Specific features that set ACD apart from the more common macular and lichenoid variants of primary cutaneous amyloidosis include dotted, reticular, or diffuse hyperpigmentation admixed with lentil-sized hypopigmented macules; mild or no associated pruritus; and, on histologic examination of skin from both hyper- and hypopigmented lesions, amyloid deposition confined to the papillary dermis, in close proximity to the epidermis (Huang et al. (2009); Mahon et al., 2016). For a discussion of genetic heterogeneity of primary localized cutaneous amyloidosis, see 105250.
Protoporphyria, erythropoietic, 1
MedGen UID:
1643471
Concept ID:
C4692546
Disease or Syndrome
Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. Symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after the initial phototoxic reaction. Photosensitivity remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. Approximately 20%-30% of individuals with EPP have some degree of liver dysfunction, which is typically mild with slight elevations of the liver enzymes. Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyrias.
Peeling skin syndrome 6
MedGen UID:
1648406
Concept ID:
C4748093
Disease or Syndrome
Peeling skin syndrome-6 (PSS6) is characterized by generalized ichthyotic dry skin and bullous peeling lesions on the trunk and limbs at sites of minor trauma. There is residual hyperpigmentation in areas of healing, but no scarring. Skin symptoms are exacerbated by warmth and humidity; however, the disorder improves markedly with age (Bolling et al., 2018; Mohamad et al., 2018). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).
Trichohepatoneurodevelopmental syndrome
MedGen UID:
1648322
Concept ID:
C4748898
Disease or Syndrome
Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018).
Hyper-IgE recurrent infection syndrome 3, autosomal recessive
MedGen UID:
1648483
Concept ID:
C4748969
Disease or Syndrome
Hyper-IgE recurrent infection syndrome-3 is an autosomal recessive immunologic disorder characterized by childhood onset of atopic dermatitis, skin infections particularly with Staphylococcus aureus, recurrent sinopulmonary infections, and increased serum IgE and IgG. Patients are susceptible to bacterial and fungal infections, including chronic mucocutaneous candidiasis. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells (summary by Beziat et al., 2018). For a discussion of genetic heterogeneity of hyper-IgE recurrent infection syndrome, see HIES1 (147060).
Erythrokeratodermia variabilis et progressiva 6
MedGen UID:
1681026
Concept ID:
C5193144
Disease or Syndrome
EKVP6 is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces. Intrafamilial variation in severity has been observed, and most affected individuals experience slowly progressive spontaneous remission after puberty (Wang et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).
Ectodermal dysplasia 15, hypohidrotic/hair type
MedGen UID:
1680605
Concept ID:
C5193145
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia (van den Bogaard et al., 2019).
Hypercholanemia, familial 1
MedGen UID:
1781366
Concept ID:
C5542604
Disease or Syndrome
Familial hypercholanemia-1 (FHCA1) is an autosomal recessive disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins. Vitamin D deficiency results in rickets, and vitamin K deficiency results in a coagulopathy (Morton et al., 2000; Shneider et al., 1997; summary by Carlton et al., 2003). See also bile acid conjugation defect-1 (BACD1; 619232), which can also show increased bile acid levels, although the bile acids in BACD1 are unconjugated. Genetic Heterogeneity of FHCA See FHCA2 (619256), caused by mutation in the SLC10A1 gene (182396) on chromosome 14q24.
Olmsted syndrome 1
MedGen UID:
1778121
Concept ID:
C5542829
Disease or Syndrome
Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927). Genetic Heterogeneity of Olmsted Syndrome OLMS2 (619208) is caused by mutation in the PERP gene (609301) on chromosome 6q23. An X-linked form of Olmsted syndrome (OLMSX; 300918) is caused by mutation in the MBTPS2 gene (300294) on chromosome Xp22.
Olmsted syndrome 2
MedGen UID:
1779902
Concept ID:
C5543096
Disease or Syndrome
Olmsted syndrome-2 (OLMS2) is characterized by mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities. The lesions are progressive, becoming thicker with verrucous fissures on the palms and soles over time. In addition, affected individuals exhibit perioral hyperkeratosis, and may have lesions around other orifices as well, such as the nostrils, perineum, and anus. Most patients also have hyperkeratotic nails and light-colored woolly hair (Duchatelet et al., 2019). Some patients may experience flexion contractures of the digits due to the severity of the keratoderma, and intractable pruritus as well as alopecia universalis have been observed (Dai et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594).
Odontochondrodysplasia 2 with hearing loss and diabetes
MedGen UID:
1782909
Concept ID:
C5543275
Disease or Syndrome
Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability (Cauwels et al., 2005; Lekszas et al., 2020). For a discussion of genetic heterogeneity of ODCD, see ODCD1 (184260).
OSTEOOTOHEPATOENTERIC SYNDROME
MedGen UID:
1785846
Concept ID:
C5543557
Disease or Syndrome
Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability (Esteve et al., 2018).
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
MedGen UID:
1794253
Concept ID:
C5562043
Disease or Syndrome
Progressive intrahepatic cholestasis-7 with or without hearing loss (PFIC7) is an autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Liver biopsy shows hepatocellular and canalicular cholestasis with fibrotic changes. Many patients have resolution of the liver abnormalities with age, although some may have persistent liver enzyme abnormalities or splenomegaly. A subset of patients develops hearing loss in childhood between early infancy and the teenage years. Rifampicin may be effective for pruritis (summary by Maddirevula et al., 2019). For a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).
Cholestasis, progressive familial intrahepatic, 8
MedGen UID:
1794255
Concept ID:
C5562045
Disease or Syndrome
Progressive familial intrahepatic cholestasis-8 (PFIC8) is an autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferase presenting in the infantile period (summary by Unlusoy Aksu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).
Cholestasis, progressive familial intrahepatic, 9
MedGen UID:
1809292
Concept ID:
C5676973
Disease or Syndrome
Progressive familial intrahepatic cholestasis-9 (PFIC9) is an autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Affected individuals have hepatosplenomegaly and may have portal hypertension or upper gastrointestinal bleeding. Liver biopsy shows fibrosis, cirrhosis, bile duct proliferation, and abnormal bile duct morphology. The disorder is thought to result from ciliary defects in cholangiocytes, consistent with a ciliopathy that appears to be restricted to the liver. Treatment with ursodeoxycholic acid (UDCA) or liver transplant is effective (Luan et al., 2021). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).
Cholestasis, progressive familial intrahepatic, 10
MedGen UID:
1807702
Concept ID:
C5676981
Disease or Syndrome
Progressive familial intrahepatic cholestasis-10 (PFIC10) is an autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Features include jaundice, pruritis, and hepatomegaly associated with increased serum bilirubin and bile acids. Liver transaminases may be variably increased, but gamma-glutamyltransferase (GGT; see 612346) is normal. Liver biopsy shows hepatocellular and canalicular cholestasis with giant cell changes. Although rare patients may have episodes of diarrhea and even show endoscopic features of microvillus inclusion disease (MVID), this tends to be transient and cholestasis dominates the clinical picture (Gonzales et al., 2017; Cockar et al., 2020). For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600).
Cholestasis, progressive familial intrahepatic, 11
MedGen UID:
1807308
Concept ID:
C5676985
Disease or Syndrome

Recent clinical studies

Etiology

da Silva N, Augustin M, Hilbring C, Braren-von Stülpnagel CC, Sommer R
BMJ Open 2022 Sep 23;12(9):e055477. doi: 10.1136/bmjopen-2021-055477. PMID: 36153012Free PMC Article
He HQ, Shen WT, Pei Q, Fei JB, Yu Y, Qin HH, Wang GJ
Medicine (Baltimore) 2022 Sep 2;101(35):e30472. doi: 10.1097/MD.0000000000030472. PMID: 36107571Free PMC Article
Lu PH, Chuo HE, Kuo KL, Liao JF, Lu PH
Toxins (Basel) 2021 Oct 30;13(11) doi: 10.3390/toxins13110769. PMID: 34822553Free PMC Article
Nau TG, Rau V, Zeidler C, Ständer S, Pereira MP
Acta Derm Venereol 2021 Sep 28;101(9):adv00562. doi: 10.2340/00015555-3925. PMID: 34515798Free PMC Article
Pereira MP, Farcas A, Zeidler C, Ständer S
Acta Derm Venereol 2021 Sep 17;101(9):adv00550. doi: 10.2340/00015555-3892. PMID: 34405244Free PMC Article

Diagnosis

da Silva N, Augustin M, Hilbring C, Braren-von Stülpnagel CC, Sommer R
BMJ Open 2022 Sep 23;12(9):e055477. doi: 10.1136/bmjopen-2021-055477. PMID: 36153012Free PMC Article
He HQ, Shen WT, Pei Q, Fei JB, Yu Y, Qin HH, Wang GJ
Medicine (Baltimore) 2022 Sep 2;101(35):e30472. doi: 10.1097/MD.0000000000030472. PMID: 36107571Free PMC Article
Topp J, Apfelbacher C, Ständer S, Augustin M, Blome C
J Invest Dermatol 2022 Feb;142(2):343-354. Epub 2021 Jul 31 doi: 10.1016/j.jid.2021.06.032. PMID: 34339743
Nau TG, Rau V, Zeidler C, Ständer S, Pereira MP
Acta Derm Venereol 2021 Sep 28;101(9):adv00562. doi: 10.2340/00015555-3925. PMID: 34515798Free PMC Article
Pereira MP, Farcas A, Zeidler C, Ständer S
Acta Derm Venereol 2021 Sep 17;101(9):adv00550. doi: 10.2340/00015555-3892. PMID: 34405244Free PMC Article

Therapy

He HQ, Shen WT, Pei Q, Fei JB, Yu Y, Qin HH, Wang GJ
Medicine (Baltimore) 2022 Sep 2;101(35):e30472. doi: 10.1097/MD.0000000000030472. PMID: 36107571Free PMC Article
Lu PH, Chuo HE, Kuo KL, Liao JF, Lu PH
Toxins (Basel) 2021 Oct 30;13(11) doi: 10.3390/toxins13110769. PMID: 34822553Free PMC Article
Lu PH, Wang JY, Chuo HE, Lu PH
Toxins (Basel) 2021 Oct 4;13(10) doi: 10.3390/toxins13100702. PMID: 34678995Free PMC Article
Satoh T, Yokozeki H, Murota H, Tokura Y, Kabashima K, Takamori K, Shiohara T, Morita E, Aiba S, Aoyama Y, Hashimoto T, Katayama I
J Dermatol 2021 Sep;48(9):e399-e413. Epub 2021 Jul 20 doi: 10.1111/1346-8138.16066. PMID: 34288036
Lipman ZM, Ingrasci G, Yosipovitch G
Med Clin North Am 2021 Jul;105(4):699-721. doi: 10.1016/j.mcna.2021.04.007. PMID: 34059246

Prognosis

Koyuncu S, Solak EO, Karakukcu C, Gundogdu A, Uysal C, Zararsız G, Kocyigit I, Sipahioğlu MH, Oymak O, Borlu M, Tokgoz B
Int Urol Nephrol 2022 Mar;54(3):619-625. Epub 2021 Jul 2 doi: 10.1007/s11255-021-02929-0. PMID: 34213714
Makar M, Smyth B, Brennan F
Kidney Blood Press Res 2021;46(6):659-669. Epub 2021 Sep 7 doi: 10.1159/000518391. PMID: 34515143
Augustin M, Garbe C, Hagenström K, Petersen J, Pereira MP, Ständer S
J Eur Acad Dermatol Venereol 2021 Nov;35(11):2270-2276. Epub 2021 Jul 24 doi: 10.1111/jdv.17485. PMID: 34192369
Kogame T, Kamitani T, Yamazaki H, Ogawa Y, Fukuhara S, Kabashima K, Yamamoto Y
J Eur Acad Dermatol Venereol 2021 Oct;35(10):2059-2066. Epub 2021 Jun 23 doi: 10.1111/jdv.17443. PMID: 34077574
He M, Wu L, Huang D, Yau V, Yu S
J Clin Neurosci 2020 Sep;79:108-112. Epub 2020 Aug 5 doi: 10.1016/j.jocn.2020.07.022. PMID: 33070876

Clinical prediction guides

He HQ, Shen WT, Pei Q, Fei JB, Yu Y, Qin HH, Wang GJ
Medicine (Baltimore) 2022 Sep 2;101(35):e30472. doi: 10.1097/MD.0000000000030472. PMID: 36107571Free PMC Article
Lu PH, Chuo HE, Kuo KL, Liao JF, Lu PH
Toxins (Basel) 2021 Oct 30;13(11) doi: 10.3390/toxins13110769. PMID: 34822553Free PMC Article
Lu PH, Wang JY, Chuo HE, Lu PH
Toxins (Basel) 2021 Oct 4;13(10) doi: 10.3390/toxins13100702. PMID: 34678995Free PMC Article
Pereira MP, Farcas A, Zeidler C, Ständer S
Acta Derm Venereol 2021 Sep 17;101(9):adv00550. doi: 10.2340/00015555-3892. PMID: 34405244Free PMC Article
Satoh T, Yokozeki H, Murota H, Tokura Y, Kabashima K, Takamori K, Shiohara T, Morita E, Aiba S, Aoyama Y, Hashimoto T, Katayama I
J Dermatol 2021 Sep;48(9):e399-e413. Epub 2021 Jul 20 doi: 10.1111/1346-8138.16066. PMID: 34288036

Recent systematic reviews

Dervout C, Boulais N, Barnetche T, Nousbaum JB, Brenaut E, Misery L
Acta Derm Venereol 2022 Feb 22;102:adv00653. doi: 10.2340/actadv.v102.310. PMID: 35088869Free PMC Article
Topp J, Apfelbacher C, Ständer S, Augustin M, Blome C
J Invest Dermatol 2022 Feb;142(2):343-354. Epub 2021 Jul 31 doi: 10.1016/j.jid.2021.06.032. PMID: 34339743
Lu PH, Chuo HE, Kuo KL, Liao JF, Lu PH
Toxins (Basel) 2021 Oct 30;13(11) doi: 10.3390/toxins13110769. PMID: 34822553Free PMC Article
Lu PH, Wang JY, Chuo HE, Lu PH
Toxins (Basel) 2021 Oct 4;13(10) doi: 10.3390/toxins13100702. PMID: 34678995Free PMC Article
Yang Y, Guo L, Chen Z, Jiang X, Liu Y
Dermatol Ther 2021 Jan;34(1):e14698. Epub 2021 Jan 4 doi: 10.1111/dth.14698. PMID: 33368902

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