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Autosomal recessive congenital ichthyosis 8(ARCI8)

MedGen UID:
462727
Concept ID:
C3151377
Disease or Syndrome
Synonyms: ARCI8; ICHTHYOSIS, LAMELLAR, 4; LAMELLAR ICHTHYOSIS, LATE-ONSET
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): LIPN (10q23.31)
OMIM®: 613943

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 general phenotypic description and 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

Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
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.
Orthokeratosis
MedGen UID:
375169
Concept ID:
C1843359
Finding
Formation of an epidermal layer which lacks nuclei during normal keratinization.

Recent clinical studies

Etiology

Liu JJ, Yuan YY, Zhang XQ, Li ZM, Xu YS, Gao SM, Cai JF, Shao XH, Lin XH, Li BX
Clin Exp Dermatol 2015 Jan;40(1):56-62. Epub 2014 Aug 22 doi: 10.1111/ced.12410. [Epub ahead of print] PMID: 25154629
Sethuraman G, Sreenivas V, Yenamandra VK, Gupta N, Sharma VK, Marwaha RK, Bhari N, Irshad M, Kabra M, Thulkar S
Br J Dermatol 2015 Jan;172(1):208-14. Epub 2014 Dec 30 doi: 10.1111/bjd.13131. [Epub ahead of print] PMID: 24864027
Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E
Clin Exp Dermatol 2013 Dec;38(8):911-6. Epub 2013 Apr 26 doi: 10.1111/ced.12148. [Epub ahead of print] PMID: 23621129
Goldsmith T, Fuchs-Telem D, Israeli S, Sarig O, Padalon-Brauch G, Bergman R, Indelman M, Sprecher E, Nousbeck J
Exp Dermatol 2013 Apr;22(4):251-4. doi: 10.1111/exd.12110. PMID: 23528209
Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C
Orphanet J Rare Dis 2013 Feb 15;8:28. doi: 10.1186/1750-1172-8-28. [Epub ahead of print] PMID: 23414570Free PMC Article

Diagnosis

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
Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E
Clin Exp Dermatol 2013 Dec;38(8):911-6. Epub 2013 Apr 26 doi: 10.1111/ced.12148. [Epub ahead of print] PMID: 23621129
Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C
Orphanet J Rare Dis 2013 Feb 15;8:28. doi: 10.1186/1750-1172-8-28. [Epub ahead of print] PMID: 23414570Free PMC Article
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. [Epub ahead of print] PMID: 23192619Free PMC Article
Akiyama M
Hum Mutat 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. PMID: 20672373

Therapy

Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD
J Allergy Clin Immunol 2009 Sep;124(3):536-43. Epub 2009 Aug 14 doi: 10.1016/j.jaci.2009.06.009. [Epub ahead of print] PMID: 19683336Free PMC Article

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
Habib A, Pasha W, Raza N, Hameed A
J Coll Physicians Surg Pak 2011 Aug;21(8):503-5. doi: 08.2011/JCPSP.503505. PMID: 21798141
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
Burdette-Taylor S
Ostomy Wound Manage 1994 Sep;40(7):14-9. PMID: 7546086
Williams ML, Elias PM
J Clin Invest 1984 Jul;74(1):296-300. doi: 10.1172/JCI111415. PMID: 6736251Free PMC Article

Clinical prediction guides

Sethuraman G, Sreenivas V, Yenamandra VK, Gupta N, Sharma VK, Marwaha RK, Bhari N, Irshad M, Kabra M, Thulkar S
Br J Dermatol 2015 Jan;172(1):208-14. Epub 2014 Dec 30 doi: 10.1111/bjd.13131. [Epub ahead of print] PMID: 24864027
Dufresne H, Hadj-Rabia S, Méni C, Sibaud V, Bodemer C, Taïeb C
Orphanet J Rare Dis 2013 Feb 15;8:28. doi: 10.1186/1750-1172-8-28. [Epub ahead of print] PMID: 23414570Free 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. [Epub ahead of print] PMID: 11398099Free 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
Choate KA, Williams ML, Khavari PA
J Invest Dermatol 1998 Jan;110(1):8-12. doi: 10.1046/j.1523-1747.1998.00070.x. PMID: 9424079

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