Ichthyosis, Congenital, Autosomal Recessive 4b

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OMIM 57 242500 Disease Ontology 12 DOID:0060713 ICD10 33 Q80.4 Orphanet 59 ORPHA457 UMLS via Orphanet 74 C0239849 C0598226 ICD10 via Orphanet 34 Q80.4

MedGen 42 C0598226 C0239849 MeSH 44 D017490 KEGG 37 H00733 SNOMED-CT via HPO 69 258211005 128306009 193570009 247053007 18265008 127559009 62909004 26996000 396228006 399955009 200948000 396349005 396350005 399992009 400005007 81793007 282020008 367494004 49550006 95281009 62218008 34095006 213026003 405501007 16046003 409623005 254156001 268282005 249765007 248062006 more UMLS 73 C0598226 C0239849

OMIM : ⁵⁷ Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose and ears are flattened and appear rudimentary. Constricting bands around the extremities can restrict movement and cause digital necrosis. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. Babies who survive into infancy and beyond develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma (see 242300) (summary by Rajpopat et al., 2011). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass lamellar ichthyosis (LI), nonbullous congenital ichthyosis erythroderma (NCIE), and harlequin ichthyosis (Oji et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (242500)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 4b, also known as harlequin ichthyosis, is related to ectropion and ichthyosis, congenital, autosomal recessive 4a. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 4b is ABCA12 (ATP Binding Cassette Subfamily A Member 12), and among its related pathways/superpathways are ABC transporters and Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin and eye, and related phenotypes are hearing abnormality and depressed nasal ridge

UniProtKB/Swiss-Prot : ⁷⁵ Ichthyosis, congenital, autosomal recessive 4B: A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma.

NIH Rare Diseases : ⁵³ Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern. 

Genetics Home Reference : ²⁵ Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.

Disease Ontology : ¹² An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears. constricting bands around the extremities and frequently lethality during infancy that has material basis in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35.

Wikipedia : ⁷⁶ Harlequin-type ichthyosis is a genetic disorder which results in thickened skin over nearly the entire... more...

Clinical features from OMIM:

242500

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