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Autosomal recessive congenital ichthyosis 3(ARCI3)

MedGen UID:
336200
Concept ID:
C1847849
Disease or Syndrome
Synonyms: ARCI3; COLLODION BABY, SELF-HEALING; ICHTHYOSIS, LAMELLAR, 5
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): ALOXE3 (17p13.1)
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 description

From GHR
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://ghr.nlm.nih.gov/condition/lamellar-ichthyosis

Clinical features

Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Anatomical Abnormality
The structure representing the everted margin of a part
Eclabion
MedGen UID:
763344
Concept ID:
C3550430
Finding
A turning outward of the lip or lips, that is, eversion of the lips.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Congenital Abnormality
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.
Hypohidrosis
MedGen UID:
108211
Concept ID:
C0553721
Finding
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.

Recent clinical studies

Etiology

Zhang SQ, Li CX, Gao XQ, Qiu WY, Chen Q, Li XM, Zhou X, Tian X, Tang ZP, Zhao T, Zhang F, Zhang XB
Int J Dermatol 2016 Feb;55(2):201-7. Epub 2015 Jul 28 doi: 10.1111/ijd.12806. PMID: 26220141
Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG
Int J Mol Sci 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. PMID: 26370990Free PMC Article
Dreyfus I, Chouquet C, Ezzedine K, Henner S, Chiavérini C, Maza A, Pascal S, Rodriguez L, Vabres P, Martin L, Mallet S, Barbarot S, Dupuis J, Mazereeuw-Hautier J
Orphanet J Rare Dis 2014 Jan 6;9:1. doi: 10.1186/1750-1172-9-1. PMID: 24393603Free PMC Article
Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC
J Invest Dermatol 2009 Jun;129(6):1421-8. Epub 2009 Jan 8 doi: 10.1038/jid.2008.409. PMID: 19131948
Laiho E, Niemi KM, Ignatius J, Kere J, Palotie A, Saarialho-Kere U
Eur J Hum Genet 1999 Sep;7(6):625-32. doi: 10.1038/sj.ejhg.5200353. PMID: 10482949

Diagnosis

Sugiura K, Akiyama M
J Dermatol Sci 2015 Jul;79(1):4-9. Epub 2015 Apr 30 doi: 10.1016/j.jdermsci.2015.04.009. PMID: 25982146
Benmously-Mlika R, Zaouak A, Mrad R, Laaroussi N, Abdelhak S, Hovnanian A, Mokhtar I
Int J Dermatol 2014 Dec;53(12):1478-80. Epub 2014 Sep 10 doi: 10.1111/ijd.12569. PMID: 25209454
Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F
Mol Biol Rep 2013 Mar;40(3):2527-32. Epub 2012 Nov 29 doi: 10.1007/s11033-012-2333-1. PMID: 23192619Free PMC Article
Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat MA, Vicente A, Martín-Santiago A, Garcia-Bravo B, Feito M, Baselga E, Círia S, de Lucas R, Ginarte M, González-Sarmiento R, Torrelo A
J Am Acad Dermatol 2012 Aug;67(2):240-4. Epub 2011 Oct 14 doi: 10.1016/j.jaad.2011.07.033. PMID: 22000705
Akiyama M, Sawamura D, Shimizu H
Clin Exp Dermatol 2003 May;28(3):235-40. PMID: 12780701

Therapy

Wang T, Xu C, Zhou X, Li C, Zhang H, Lian BQ, Lee JJ, Shen J, Liu Y, Lian CG
Int J Mol Sci 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791. PMID: 26370990Free PMC Article
Benmously-Mlika R, Zaouak A, Mrad R, Laaroussi N, Abdelhak S, Hovnanian A, Mokhtar I
Int J Dermatol 2014 Dec;53(12):1478-80. Epub 2014 Sep 10 doi: 10.1111/ijd.12569. PMID: 25209454
Li H, Loriè EP, Fischer J, Vahlquist A, Törmä H
J Invest Dermatol 2012 Oct;132(10):2368-75. Epub 2012 May 24 doi: 10.1038/jid.2012.160. PMID: 22622417
Rossi G, Mesia D
Ann Trop Paediatr 2011;31(3):247-9. doi: 10.1179/1465328111Y.0000000020. PMID: 21781420
Hofmann B, Stege H, Ruzicka T, Lehmann P
Br J Dermatol 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. PMID: 10583110

Prognosis

Tontchev G, Silverberg NB, Shlasko E, Henry C, Roberts JL, Roth MZ
Pediatr Dermatol 2014 Sep-Oct;31(5):625-9. doi: 10.1111/pde.12446. PMID: 25187390
Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D
Orphanet J Rare Dis 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33. PMID: 21122093Free PMC Article
Malik R, Kumar V, Chauhan M, Nanda S
Arch Gynecol Obstet 2009 Sep;280(3):489-90. Epub 2009 Jan 24 doi: 10.1007/s00404-009-0939-x. PMID: 19169698
Hofmann B, Stege H, Ruzicka T, Lehmann P
Br J Dermatol 1999 Oct;141(4):642-6. doi: 10.1046/j.1365-2133.1999.03101.x. PMID: 10583110
Bichakjian CK, Nair RP, Wu WW, Goldberg S, Elder JT
J Invest Dermatol 1998 Feb;110(2):179-82. doi: 10.1046/j.1523-1747.1998.00104.x. PMID: 9457916

Clinical prediction guides

Bourrat E, Blanchet-Bardon C, Derbois C, Cure S, Fischer J
Arch Dermatol 2012 Oct;148(10):1191-5. doi: 10.1001/archdermatol.2012.1947. PMID: 22801880
Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M
Am J Hum Genet 2007 Mar;80(3):467-77. Epub 2007 Jan 23 doi: 10.1086/512487. PMID: 17273967Free PMC Article
Krebsová A, Küster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC
Am J Hum Genet 2001 Jul;69(1):216-22. Epub 2001 Jun 7 doi: 10.1086/321284. PMID: 11398099Free PMC Article
Virolainen E, Wessman M, Hovatta I, Niemi KM, Ignatius J, Kere J, Peltonen L, Palotie A
Am J Hum Genet 2000 Mar;66(3):1132-7. doi: 10.1086/302813. PMID: 10712223Free PMC Article
Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozgüc M, Weissenbach J, Prud'homme JF
Am J Hum Genet 2000 Mar;66(3):904-13. doi: 10.1086/302814. PMID: 10712205Free PMC Article

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