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Ichthyosis lamellosa and congenital (with preserved transglutaminase activity)Q80.2

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 19.01.2022

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Synonym(s)

Nonbullous congenital lamellar ichthyosis

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DefinitionThis section has been translated automatically.

The family of autosomal recessive lamellar ichthyoses and congenital ichthyosiform erythroderma are rare, autosomal recessive inherited mostly severe (often collodion baby at birth) keratinization anomalies, which are etiopathogenetically caused by mutation of various genes (see below classification). About 60% of autosmal recessive congenital erythroderma affect this group.

ClassificationThis section has been translated automatically.

The family of autosomal recessive lamellarichthyoses (LI)/congenital ichthyosiform erythroderma (CIE) with preserved transglutaminase activity includes the following variations (the percentages indicated refer to the total group of autosmal recessive congenital ichthyoses - ACRI)

  • LI/ CIE (ARCI2) OMIM: 242100(ALOX12B) (7%)
  • LI/ CIE (ARCI3) OMIM: 242100(ALOXE3) (7%)
  • LI/ CIE (ARCI4A) OMIM: 60127 (ABCA12)
  • LI/ CIE (ARCI5) OMIM: 604777 (CYP4F22) (8%)
  • LI/ CIE (ARCI6) OMIM: 612281 (NIPAL4) (16%)
  • LI/ CIE (ARCI8) OMIM: 613943 (LIPN)
  • LI/ CIE (ARCI9) OMIM: 615023 (CERS3)
  • LI/ CIE (ARCI0) OMIM: 615024 (PNPLA1)
  • LI/ CIE (ARCI11) OMIM: 602400 (ST14)
  • LI/ CIE (ARCI12) OMIM: 617320 (CASP14)

ManifestationThis section has been translated automatically.

From birth; partly under the picture of severe erythroderma.

Clinical featuresThis section has been translated automatically.

Already at birth picture of a very pronounced erythroderma, in the course of the first years of life eutliche regression; it remains in adolescence and adulthood a variably pronounced, but occasionally only discrete, generalized, fine gray-white scaling with pronounced palmo-Plantarkeratosen. All patients show heat intolerance due to reduced sweating. Particular attention should be paid to this in affected infants (collapse states possible).

HistologyThis section has been translated automatically.

Nonspecific; exclusion of epidermolytic hyperkeratosis.

DiagnosisThis section has been translated automatically.

Biochemical detection of transglutaminase deficiency in skin frozen sections.

TherapyThis section has been translated automatically.

S.u. Ichthyosis. S.a.u. autosomal dominant ichthyosis lamellosa.

Progression/forecastThis section has been translated automatically.

The disorders are lifelong, but may show marked improvement in adulthood.

LiteratureThis section has been translated automatically.

  1. Akiyama M et al (2003) The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 28: 235-240
  2. Ganemo A et al (2003) Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients. Acta Derm Venereol 83: 24-30
  3. Esposito G et al (2001) Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis. J Invest Dermatol 116: 809-812

Authors

Last updated on: 19.01.2022

Author: Prof. Dr. med. Peter Altmeyer