Ichthyosis, Lamellar, 1

Alternative Names

  • LI1
  • Ichthyosis Congenita
  • Lamellar Exfoliation of Newborn
  • Desquamation of Newborn
  • Collodion Fetus
  • Lamellar Ichthyosis
  • LI
  • Lamellar Ichthyosis, Type 1
  • Ichthyosis Congenita II
  • ICR2
  • Self-Healing Collodion Baby

Associated Genes

Transglutaminase 1
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

242300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

14q11.2

Description

Congenital ichthyosis is a clinically and genetically heterogeneous group of disorders of keratinization characterized by a significant and incapacitating scaling of the skin. Most forms are congenital and display different modes of inheritance. Among them, autosomal recessive lamellar ichthyosis is a severe condition with an estimated prevalence of 1 per 200,000 newborns, presenting a 'collodion-baby' syndrome at birth: the newborn is embedded in a hyperkeratotic skin. Spontaneous shedding of the membrane leaves residual ichthyosis and may lead to grave sequela, such as joint contractures, ectropion and secondary corneal involvement. Sometimes during adulthood, scarring alopecia, palmoplantar keratoderma and associated erythroderma are observed, and are therefore features of phenotypic variability.

Molecular Genetics

By homozygosity mapping, the localization of the gene causing lamellar ichthyosis 1 could be identified to a locus on chromosome 14q. Several transcribed genes have been mapped to the chromosome 14 region containing the lamellar ichthyosis gene. The transglutaminase 1 gene (TGM1), which encodes one of the enzymes responsible for cross-linking epidermal proteins during formation of the stratum corneum, maps to this interval. The TGM1 locus is completely linked to lamellar ichthyosis, suggesting that TGM1 is a good candidate for further investigation of this disorder.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
242300.1.1United Arab EmiratesFemaleYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.1085T>GHomozygousAutosomal, RecessiveBastaki et al. 2017
242300.2.1Saudi ArabiaMaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.398_407dupHomozygousAutosomal, RecessiveWakil et al. 2016 Index patient
242300.3.1Saudi ArabiaMaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.398_407dupHomozygousAutosomal, RecessiveWakil et al. 2016 Index patient
242300.3.2Saudi ArabiaMaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.398_407dupHomozygousAutosomal, RecessiveWakil et al. 2016 Relative of 242300.3...
242300.3.3Saudi ArabiaFemaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.398_407dupHomozygousAutosomal, RecessiveWakil et al. 2016 Relative of 242300.3...
242300.3.4Saudi ArabiaFemaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.398_407dupHomozygousAutosomal, RecessiveWakil et al. 2016 Relative of 242300.3...
242300.4.1Saudi ArabiaMaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.975_976CT[1]HomozygousAutosomal, RecessiveWakil et al. 2016 Index patient
242300.5.1EgyptMaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.428G>AHomozygousAutosomal, RecessiveRussell et al. 1995
242300.5.2EgyptFemaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.428G>AHomozygousAutosomal, RecessiveRussell et al. 1995 First cousin, once r...
242300.6.1EgyptMaleYesYes Erythroderma; Scaling skin; Flexion co...NM_000359.3:c.428G>AHomozygousAutosomal, RecessiveShawky et al. 2004 The patient had an a...
242300.7.1EgyptMaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.428G>AHomozygousAutosomal, RecessiveShawky et al. 2004 The patient had a si...
242300.8.1EgyptMaleYesYes Erythroderma; Scaling skin; EctropionNM_000359.3:c.428G>AHomozygousAutosomal, RecessiveShawky et al. 2004 The patient had a si...
242300.9.1EgyptMaleYesYes Congenital nonbullous ichthyosiform eryt...NM_000359.3:c.428G>AHomozygousAutosomal, RecessiveShawky et al. 2004
242300.10.1EgyptFemaleYesYes Scaling skin;NM_000359.3:c.428G>AHomozygousAutosomal, RecessiveShawky et al. 2004 The patient had a si...
242300.10.2EgyptFemaleYesYes Scaling skinNM_000359.3:c.428G>AHeterozygousAutosomal, RecessiveShawky et al. 2004 Mother of 242300.10....
242300.10.3EgyptFemaleYesYes Scaling skin; Bilateral tonic-clonic se...NM_000359.3:c.877-2A>GHomozygousAutosomal, RecessiveShawky et al. 2004 First cousin of 2423...
242300.11.1EgyptFemaleYesYes Scaling skin; ErythemaNM_000359.3:c.877-2A>GHomozygousAutosomal, RecessiveShawky et al. 2004 The patient had a si...

Other Reports

Egypt

In six inbred Egyptian families with 10 affected patients, Russell et al. (1994) mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with transglutaminase-1 gene (TGM1). 

Oman

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, four children were born with congenital icthyosis. 

Saudi Arabia

Al Aboud et al. (2007) described an inbred Saudi tribe in which 20 patients, aged between 4 and 16-years, presented with lamellar ichthyosis.  All affected individuals came from five sibships. 

United Arab Emirates

Krebsova et al. (2001) described three Emirati patients from two unrelated families affected with congenital ichthyosis. Patients were born to consanguineous parents. Linkage analysis excluded all known ARCI loci.  

 

© CAGS 2024. All rights reserved.