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H syndrome(HJCD; PHID; SHML)

MedGen UID:
400532
Concept ID:
C1864445
Disease or Syndrome
Synonyms: Asrar Facharzt Haque syndrome; Faisalabad histiocytosis; HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS; Histiocytosis with joint contractures and sensorineural deafness; Histiocytosis-lymphadenopathy plus syndrome; HYPERPIGMENTATION, CUTANEOUS, WITH HYPERTRICHOSIS, HEPATOSPLENOMEGALY, HEART ANOMALIES, AND HYPOGONADISM WITH OR WITHOUT HEARING LOSS; Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism; Pigmented hypertrichosis and insulin-dependent diabetes mellitus; PIGMENTED HYPERTRICHOSIS WITH INSULIN-DEPENDENT DIABETES MELLITUS; ROSAI-DORFMAN DISEASE, FAMILIAL; SINUS HISTIOCYTOSIS AND MASSIVE LYMPHADENOPATHY
SNOMED CT: Histiocytosis-lymphadenopathy plus syndrome (711159002); SLC29A3 spectrum disorder (711159002); H syndrome (711159002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC29A3 (10q22.1)
 
Monarch Initiative: MONDO:0011273
OMIM®: 602782
Orphanet: ORPHA168569

Definition

The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012). [from OMIM]

Additional description

From MedlinePlus Genetics
Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (RDD). These conditions were once thought to be distinct disorders; however, because of the overlapping features and shared genetic cause, they are now considered to be part of the same disease spectrum. While some affected individuals have signs and symptoms characteristic of one of the conditions, others have a range of features from two or more of the conditions. The pattern of signs and symptoms can vary even within the same family.

A feature common to the disorders in this spectrum is histiocytosis, which is the overgrowth of immune system cells called histiocytes. The cells abnormally accumulate in one or more tissues in the body, which can lead to organ or tissue damage. The buildup often occurs in the lymph nodes, leading to swelling of the lymph nodes (lymphadenopathy). Other areas of cell accumulation can include the skin, kidneys, brain and spinal cord (central nervous system), or digestive tract.

This spectrum is known as histiocytosis-lymphadenopathy plus syndrome because the disorders that make up the spectrum can have additional signs and symptoms. A characteristic feature of H syndrome is abnormal patches of skin (lesions), typically on the lower body. These lesions are unusually dark (hyperpigmented) and have excessive hair growth (hypertrichosis). In addition, histiocytes accumulate at the site of the skin lesions. Other features of H syndrome include enlargement of the liver (hepatomegaly), heart abnormalities, hearing loss, reduced amounts of hormones that direct sexual development (hypogonadism), and short stature.

Like H syndrome, PHID causes patches of hyperpigmented skin with hypertrichosis. PHID is also characterized by the development of type 1 diabetes (also known as insulin-dependent diabetes mellitus), which usually begins in childhood. Type 1 diabetes occurs when the body does not produce enough of the hormone insulin, leading to dysregulation of levels of blood glucose, also called blood sugar.

Faisalabad histiocytosis typically causes lymphadenopathy and swelling of the eyelids due to accumulation of histiocytes. Affected individuals can also have joint deformities called contractures in their fingers or toes and hearing loss.

The most common feature of familial RDD is lymphadenopathy, usually affecting lymph nodes in the neck. Histiocytes can also accumulate in other parts of the body. (Familial RDD is one of several forms of RDD; the other forms are not considered part of histiocytosis-lymphadenopathy plus syndrome.)  https://medlineplus.gov/genetics/condition/histiocytosis-lymphadenopathy-plus-syndrome

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Congenital vertical talus
MedGen UID:
66821
Concept ID:
C0240912
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Tibial torsion
MedGen UID:
98099
Concept ID:
C0426900
Finding
Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.
Flexion contracture of toe
MedGen UID:
237248
Concept ID:
C1406835
Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Cardiomegaly
MedGen UID:
5459
Concept ID:
C0018800
Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Mitral valve prolapse
MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Varicose disease
MedGen UID:
21827
Concept ID:
C0042345
Disease or Syndrome
Enlarged and tortuous veins.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Left superior vena cava draining to coronary sinus
MedGen UID:
393830
Concept ID:
C2677768
Finding
A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.
Pulmonary arterial hypertension
MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
IgG4-related retroperitoneal fibrosis
MedGen UID:
20554
Concept ID:
C0035357
Disease or Syndrome
A rare systemic autoimmune disease characterized by mass-forming, potentially destructive inflammation and fibrosis in the soft tissues of the retroperitoneum, associated with elevation of serum IgG4 levels and infiltration of IgG4-positive plasma cells in at least one organ or site. Most frequent locations are peripheral to the abdominal aorta, as well as the iliac and renal arteries. Clinical symptoms are unspecific and include abdominal pain, back pain, and edema of the lower extremities. The condition may occur together with IgG4-related disease in other parts of the body.
Pancreatic hypoplasia
MedGen UID:
539808
Concept ID:
C0266267
Congenital Abnormality
Hypoplasia of the pancreas.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Flexion contracture of finger
MedGen UID:
387792
Concept ID:
C1857304
Finding
Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.
Joint contracture of the 5th finger
MedGen UID:
356345
Concept ID:
C1865702
Anatomical Abnormality
Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.
Episcleritis
MedGen UID:
4994
Concept ID:
C0014583
Disease or Syndrome
Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.
Histiocytosis
MedGen UID:
6845
Concept ID:
C0019618
Neoplastic Process
An excessive number of histiocytes (tissue macrophages).
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Cervical lymphadenopathy
MedGen UID:
66724
Concept ID:
C0235592
Disease or Syndrome
Enlarged lymph nodes in the neck.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargment (swelling) of a lymph node.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Alopecia of scalp
MedGen UID:
658454
Concept ID:
C0574769
Finding
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Facial telangiectasia
MedGen UID:
488948
Concept ID:
C0858684
Finding
Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.
Hypertrichotic hyperpigmented patch
MedGen UID:
1724981
Concept ID:
C5421672
Finding
A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.
Hypergonadotropic hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Decreased response to growth hormone stimulation test
MedGen UID:
1784655
Concept ID:
C5539399
Finding
Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
Arcus senilis
MedGen UID:
8179
Concept ID:
C0003742
Finding
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Professional guidelines

PubMed

Nofal H, AlAkad R, Nofal A, Rabie E, Chaikul T, Chiu FP, Pramanik R, Alabdulkareem A, Onoufriadis A
Dermatol Ther 2021 Sep;34(5):e15082. Epub 2021 Aug 16 doi: 10.1111/dth.15082. PMID: 34351669
Farese AM, MacVittie TJ
Drugs Today (Barc) 2015 Sep;51(9):537-48. doi: 10.1358/dot.2015.51.9.2386730. PMID: 26488033
Malfertheiner P, Selgrad M, Bornschein J
Curr Opin Gastroenterol 2012 Nov;28(6):608-14. doi: 10.1097/MOG.0b013e32835918a7. PMID: 23010682

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Histiocytic Neoplasms, 2023

Recent clinical studies

Etiology

Jacquot R, Jouret M, Valentin MG, Richard M, Jamilloux Y, Rousset F, Emile JF, Haroche J, Steinmüller L, Zekre F, Phan A, Belot A, Seve P
Front Immunol 2023;14:1061182. Epub 2023 Aug 11 doi: 10.3389/fimmu.2023.1061182. PMID: 37638031Free PMC Article
Hong SY, Kim SJ, Park MH, Lee KA
Medicina (Kaunas) 2023 Jul 28;59(8) doi: 10.3390/medicina59081387. PMID: 37629676Free PMC Article
Ungureanu IA, Cohen-Aubart F, Héritier S, Fraitag S, Charlotte F, Lequain H, Hélias-Rodzewicz Z, Haroche J, Donadieu J, Emile JF
Virchows Arch 2023 Jul;483(1):81-86. Epub 2023 Feb 9 doi: 10.1007/s00428-023-03508-7. PMID: 36754897
Abdel-Naser MB, Zouboulis CC
Rev Endocr Metab Disord 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x. PMID: 27342409
Ishaq M, Muhammad JS, Mahmood K
J Pak Med Assoc 2012 Feb;62(2):92-7. PMID: 22755365

Diagnosis

Jacquot R, Jouret M, Valentin MG, Richard M, Jamilloux Y, Rousset F, Emile JF, Haroche J, Steinmüller L, Zekre F, Phan A, Belot A, Seve P
Front Immunol 2023;14:1061182. Epub 2023 Aug 11 doi: 10.3389/fimmu.2023.1061182. PMID: 37638031Free PMC Article
Ungureanu IA, Cohen-Aubart F, Héritier S, Fraitag S, Charlotte F, Lequain H, Hélias-Rodzewicz Z, Haroche J, Donadieu J, Emile JF
Virchows Arch 2023 Jul;483(1):81-86. Epub 2023 Feb 9 doi: 10.1007/s00428-023-03508-7. PMID: 36754897
Nofal H, AlAkad R, Nofal A, Rabie E, Chaikul T, Chiu FP, Pramanik R, Alabdulkareem A, Onoufriadis A
Dermatol Ther 2021 Sep;34(5):e15082. Epub 2021 Aug 16 doi: 10.1111/dth.15082. PMID: 34351669
Jaouadi H, Zaouak A, Sellami K, Messaoud O, Chargui M, Hammami H, Jones M, Jouini R, Chadli Debbiche A, Chraiet K, Fenniche S, Mrad R, Mokni M, Turki H, Benkhalifa R, Abdelhak S
J Dermatol 2018 Aug;45(8):978-985. Epub 2018 May 29 doi: 10.1111/1346-8138.14359. PMID: 29808591
Ohno S, Char DH, Kimura SJ, O'Connor GR
Am J Ophthalmol 1977 May;83(5):735-40. doi: 10.1016/0002-9394(77)90142-8. PMID: 868972

Therapy

Ventura-Espejo L, Gracia-Darder I, Escribá-Bori S, Amador-González ER, Martín-Santiago A, Ramakers J
Pediatr Rheumatol Online J 2021 Jun 30;19(1):104. doi: 10.1186/s12969-021-00586-2. PMID: 34193201Free PMC Article
Kaya Akca U, Simsek Kiper PO, Urel Demir G, Sag E, Atalay E, Utine GE, Alikasifoglu M, Boduroglu K, Bilginer Y, Ozen S
Eur J Med Genet 2021 Apr;64(4):104185. Epub 2021 Mar 2 doi: 10.1016/j.ejmg.2021.104185. PMID: 33662637
Bloom JL, Lin C, Imundo L, Guthery S, Stepenaskie S, Galambos C, Lowichik A, Bohnsack JF
Pediatr Rheumatol Online J 2017 Oct 17;15(1):76. doi: 10.1186/s12969-017-0204-y. PMID: 29041934Free PMC Article
Herman TE, Siegel MJ
J Perinatol 2002 Sep;22(6):496-8. doi: 10.1038/sj.jp.7210765. PMID: 12168129
Ohno S, Char DH, Kimura SJ, O'Connor GR
Am J Ophthalmol 1977 May;83(5):735-40. doi: 10.1016/0002-9394(77)90142-8. PMID: 868972

Prognosis

Ma H, Qu J, Liao Y, Liu L, Yan M, Wei Y, Xu W, Luo J, Dai Y, Pang Z, Qu Q
Exp Cell Res 2024 Jan 15;434(2):113892. Epub 2023 Dec 16 doi: 10.1016/j.yexcr.2023.113892. PMID: 38104646
Ventura-Espejo L, Gracia-Darder I, Escribá-Bori S, Amador-González ER, Martín-Santiago A, Ramakers J
Pediatr Rheumatol Online J 2021 Jun 30;19(1):104. doi: 10.1186/s12969-021-00586-2. PMID: 34193201Free PMC Article
Ozlu C, Yesiltepe Mutlu G, Hatun S
J Pediatr Endocrinol Metab 2019 Jan 28;32(1):89-93. doi: 10.1515/jpem-2018-0380. PMID: 30517079
Bakhchane A, Kindil Z, Charoute H, Benchikhi K, Khadir K, Nadifi S, Baline K, Roky R, Barakat A
Curr Res Transl Med 2016 Apr-Jun;64(2):65-8. Epub 2016 Jun 1 doi: 10.1016/j.retram.2016.01.008. PMID: 27316388
Herman TE, Siegel MJ
J Perinatol 2002 Sep;22(6):496-8. doi: 10.1038/sj.jp.7210765. PMID: 12168129

Clinical prediction guides

Strapazzon G, Putzer G, Dal Cappello T, Falla M, Braun P, Falk M, Glodny B, Pinggera D, Helbok R, Brugger H
J Appl Physiol (1985) 2021 Jan 1;130(1):237-244. Epub 2020 Nov 5 doi: 10.1152/japplphysiol.00498.2020. PMID: 33151777
Bakhchane A, Kindil Z, Charoute H, Benchikhi K, Khadir K, Nadifi S, Baline K, Roky R, Barakat A
Curr Res Transl Med 2016 Apr-Jun;64(2):65-8. Epub 2016 Jun 1 doi: 10.1016/j.retram.2016.01.008. PMID: 27316388
Hiller N, Zlotogorski A, Simanovsky N, Ingber A, Ramot Y, Molho-Pessach V
Clin Imaging 2013 Mar-Apr;37(2):313-9. Epub 2012 Jul 15 doi: 10.1016/j.clinimag.2012.05.015. PMID: 23465985
Ishaq M, Muhammad JS, Mahmood K
J Pak Med Assoc 2012 Feb;62(2):92-7. PMID: 22755365
Ohno S, Char DH, Kimura SJ, O'Connor GR
Am J Ophthalmol 1977 May;83(5):735-40. doi: 10.1016/0002-9394(77)90142-8. PMID: 868972

Supplemental Content

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    Clinical resources

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      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Histiocytic Neoplasms, 2023

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