Ichthyosis, Congenital, Autosomal Recessive

Was ist Ichthyosis, Congenital, Autosomal Recessive?

This rare disease is a form of a scaling disorder which can include psoriasis, contact dermatitis, eczema, and fungal skin infections as symptoms.

Babies born with the syndrome are usually born in what is called a collodion membrane, a translucent covering, earning them the name collodion babies

This syndrome is also known as:
Collodion Baby, Self-healing; Shcb Collodion Fetus Collodion phenotype Desquamation Of Newborn Ichthyosis - congenital Ichthyosis - exfoliative Ichthyosis - lamellar Ichthyosis Congenita Ichthyosis Congenita Ii; Icr2 Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution Ichthyosis, Lamellar, 1, Formerly; Li1, Formerly Lamellar Exfoliation Of Newborn LI1 LI2 Nonbullous congenital ichthyosiform erythroderma

Was Genveränderungen verursachen Ichthyosis, Congenital, Autosomal Recessive?

Bisher wurden 14 Gene identifiziert, die das Syndrom verursachen. In den USA ist das TGM1-Gen das Gen, das am häufigsten für die Auslösung des Syndroms verantwortlich ist.

Diese Mutation verhindert, dass das Transglutaminase- 1 -Enzym richtig funktioniert. Dies verhindert, dass der Körper eine sogenannte verhornte Hülle entwickelt, die die Haut vor Wärmeverlust, Wasserverlust und Infektionen schützt.

Andere mit dem Syndrom assoziierte Gene umfassen die Gene ABCA12, ALOX12B, ALOXE3, ARC17, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, ST14, SULT2B1.

Es wird autosomal-rezessiv vererbt. Autosomal-rezessive Vererbung bedeutet, dass eine betroffene Person von jedem ihrer Elternteile eine Kopie eines mutierten Gens erhält, wodurch sie zwei Kopien eines mutierten Gens erhält. Eltern, die nur eine Kopie der Genmutation tragen, zeigen im Allgemeinen keine Symptome, haben jedoch eine 25% ige Chance, die Kopien der Genmutationen an jedes ihrer Kinder weiterzugeben.

Was sind die wichtigsten symptome von Ichthyosis, Congenital, Autosomal Recessive?

The symptoms of the syndrome are all related to the skin. In most cases these symptoms are considered to be severe.

Possible clinical traits/features:
Autosomal recessive inheritance, Nail dysplasia, Alopecia, Hypotrichosis, Congenital ichthyosiform erythroderma, Flexion contracture, Nail dystrophy, Desquamation of skin soon after birth, Everted lower lip vermilion, Erythroderma, Ectropion
Scaly skin, or skin with a scale like presentation, is the most common symptom of the syndrome. This in turn may trigger secondary complications including skin infections.

Wie wird jemand getestet? Ichthyosis, Congenital, Autosomal Recessive?

The initial testing for Ichthyosis, Congenital, Autosomal Recessive syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing

Medizinische Informationen zu Ichthyosis, Congenital, Autosomal Recessive

Lamellar ichthyosis is an autosomal recessive condition characterised by large scales on the skin with variable redness. At birth there may be a collodion appearance to the skin which is shed within the first two weeks. Huber et al., (1995) and Russell et al., (1995) identified mutations in the keratinocyte transglutaminase gene (TGM1) at 14q11. Parmentier et al., (1995), Petit et al., (1997), Laiho et al., (1997), Hennies et al., (1998) and Cserhalmi-Friedman et al., (2001) reported further mutations. However linkage analysis in 23 families showed that only 10 of them were linked to the TGM1 gene. Huber et al., (1995) also found evidence suggesting heterogeneity. Parmentier et al., (1996) mapped a second locus (LI2) to 2q33-35. Bale et al., (1996) reported two pedigrees with autosomal recessive ichthyosis apparently not mapping to 14q, however this was not lamellar ichthyosis. Hennies et al., (1998) studied 14 families, five families were found not to be mapping to chromosome 14 or 2 or a further possible candidate region on chromosome 20, suggesting at least three loci. Further mutations were found in the TGM1 gene but with no genotype/phenotype correlation. Pigg et al., (1998) reported a founder effect for TGM1 mutations in Norway. Laiho et al., (1999) studied clinical and morphological correlations for cases with TGM1 mutations. More mutations in TGM1 were reported by Yang et al., (2001) and in a mild, Japanese case by Muramatsu et al., (2004).
Fischer et al., (2000) mapped another locus for autosomal recessive lamellar ichthyosis to 19p12-q12. Fischer et al., (2000) also mapped a gene for autosomal recessive non-bullous congenital erythroderma to 3p21. This family most likely has Chanarin-Dorfman syndrome (qv). In a Finnish family, the gene for non-erythrodermic lamellar ichthyosis was localised to 19p13.1-19p13.2 by Virolainen et al., (2000). The gene involved is ALOX12B (Ashoor et al., (2006). Twenty persons from 11 families were studied by Lesueur and ALOX12B mutations were found in 9/11 families. Two infants with mild nonbullous congenital ichthyosiform erythroderma with a self healing collodion membrane were reported by Harting et al., (2008).
Schorderet et al., (1997) reported prenatal diagnosis by DNA analysis.
Choate et al., (1996) reported corrective gene transfer in mutant human keratinocytes that were transplanted to immunodeficient mice.
Lefevre et al., (2003) found five missense mutations in the ABCA12 gene at 2q33-35 in nine families from Africa affected by LI2. This is a major gene in this condition (Sakai et al., 2009)
Lefevre et al., (2006) found 7 homozygous mutations in 12 families (mostly from Algeria) in FLJ39501 on chromosome 19p12 (LI3). This gene encodes cytochrome P450.
Hatsell et al., (2003) mapped a gene to 12q13. - the gene involved is CSTA (Blaydon et al., 2011).
Wajid et al., (2010) and Lefevre et al., (2004) mapped a gene to 5q and mutations were found in ichthyin or NIPAL4.
Israeli et al., (2011) mapped the condition (onset at 5 years) to 10q23 and found mutations in LIPN.
Note that the so-called South African 'bathing suite' lamellar ichthyosis, has now been found to have TGM1 mutations (Arita et al., 2007).
Two unrelatedcases reported by Natsuga et al., (2007) had multiple skin malignancies including malignant melanoma. Both had ABCA12 mutations.
Note that in an analysis of 250 patients with recessive congenital ichthyosis (Ecklet al., 2009) there was evidence that ALOXE3 and ALOX12B were hotspots for mutations.
An acral self-healing version reported by Mazereeuw-Hautier et al., (2009) had a TGM1 mutation, and Scandinavian patients with self-improving collodion ichthyosis had ALOX12B (mostly) and ALOXE3 mutations.
Mutations in PNPLA1 have also been implicated (Grall et al., 2012, Lee et al., 2016).
Mutations in CERS3 have alao been found (Radner et al., 2013).
Zimmer et al. (2017) described eighteen patients with congenital ichthyosis and sixteen novel biallelic mutations in the PNPLA 1 gene. Clinical features included collodion baby, fine lamellar ichthyosis, mild erythroderma, white scaling, hyperlinearity in palms and soles, palmoplantar keratoderma, ectropion, anomalies of ears (abnormal plication of ears, hypoplastic or deformed auricles), impaired ability to sweat leading to heat intolerance, and dermatophytosis.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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