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

Author: Prof. Dr. med. Peter Altmeyer

Last updated on: 19.01.2022

Synonym(s)

Nonbullous congenital lamellar ichthyosis

Definition
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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.

Classification
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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)

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Manifestation
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From birth; partly under the picture of severe erythroderma.

Clinical features
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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).

Histology
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Nonspecific; exclusion of epidermolytic hyperkeratosis.

Diagnosis
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Biochemical detection of transglutaminase deficiency in skin frozen sections.

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

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

Literature
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Akiyama M et al (2003) The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 28: 235-240
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
Esposito G et al (2001) Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis. J Invest Dermatol 116: 809-812