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Autosomal recessive congenital ichthyosis 3(ARCI3)

MedGen UID:
761665
Concept ID:
C3539888
Disease or Syndrome
Synonyms: ARCI3; ICHTHYOSIS, LAMELLAR, 5
 
Gene (location): ALOXE3 (17p13.1)
 
Monarch Initiative: MONDO:0011680
OMIM®: 606545

Definition

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 a 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 discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). [from OMIM]

Additional descriptions

From MedlinePlus Genetics
Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures).  https://medlineplus.gov/genetics/condition/lamellar-ichthyosis
From MedlinePlus Genetics
Some people with NBCIE have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), decreased or absent sweating (anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an absence of hair growth (alopecia) in certain areas, often affecting the scalp and eyebrows.

In individuals with NBCIE, some of the skin problems may improve by adulthood. Life expectancy is normal in people with NBCIE.

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin. Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface is exposed. The collodion membrane is usually shed during the first few weeks of life. Following shedding of the collodion membrane, the skin is red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.  https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma

Clinical features

From HPO
Palmar hyperlinearity
MedGen UID:
400466
Concept ID:
C1864168
Finding
Exaggerated skin markings (dermatoglyphics) on the palms of the hand.
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Heat intolerance
MedGen UID:
66659
Concept ID:
C0231274
Pathologic Function
The inability to maintain a comfortable body temperature in warm or hot weather.
Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Eclabion
MedGen UID:
763344
Concept ID:
C3550430
Finding
A turning outward of the lip or lips, that is, eversion of the lips.
Anhidrosis
MedGen UID:
1550
Concept ID:
C0003028
Disease or Syndrome
Inability to sweat.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

Professional guidelines

PubMed

Takeichi T, Ohno Y, Tanahashi K, Ito Y, Shiraishi K, Utsunomiya R, Yoshida S, Ikeda K, Nomura H, Morizane S, Sayama K, Ogi T, Muro Y, Kihara A, Akiyama M
J Lipid Res 2022 Dec;63(12):100308. Epub 2022 Nov 1 doi: 10.1016/j.jlr.2022.100308. PMID: 36332686Free PMC Article
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Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818

Recent clinical studies

Etiology

Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V
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Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, Malovitski K, Israeli S, Grafi-Cohen M, Bitterman-Deutsch O, Molho-Pessach V, Cohen-Barak E, Bach G, Garty BZ, Bergman R, Harel A, Nanda A, Lestringant GG, McGrath J, Shalev S, Shomron N, Mashiah J, Eskin-Schwartz M, Sprecher E, Sarig O
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Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818
Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532

Diagnosis

Supsrisunjai C, Bunnag T, Chaowalit P, Boonpuen N, Kootiratrakarn T, Wessagowit V
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Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532

Therapy

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Prognosis

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Clinical prediction guides

Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L
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PLoS One 2021;16(10):e0258777. Epub 2021 Oct 20 doi: 10.1371/journal.pone.0258777. PMID: 34669720Free PMC Article
Abeni D, Rotunno R, Diociaiuti A, Giancristoforo S, Bonamonte D, Filoni A, Schepis C, Siragusa M, Neri I, Virdi A, Castiglia D, Zambruno G, Bodemer C, El Hachem M
Acta Derm Venereol 2021 Jun 22;101(6):adv00477. doi: 10.2340/00015555-3822. PMID: 33954798Free PMC Article
Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S
Mol Genet Genomic Med 2020 Feb;8(2):e1076. Epub 2019 Dec 13 doi: 10.1002/mgg3.1076. PMID: 31833240Free PMC Article
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Br J Dermatol 2020 Mar;182(3):729-737. Epub 2019 Aug 26 doi: 10.1111/bjd.18211. PMID: 31168818

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