Congenital ichthyosiform erythroderma

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Classification according to ICD-10
Q80.2 Lamellar Ichthyosis - Collodion Baby
ICD-10 online (WHO version 2019)

The congenital ichthyosiform erythroderma (CIE) is a very rare to the autosomal recessive congenital ichthyosis associated (ARCI) congenital skin disease with a combination of redness of the skin of the whole body ( erythrodermic ) and the fine white flakes ( ichthyosis ).

The disease can be viewed as a variant of lamellar ichthyosis .

Synonyms are: ichthyosis, erythrodermic; English Congenital non-bullous ichthyosiform erythroderma

As a non-bullous form, the disease must be differentiated from the autosomal dominant inherited epidermolytic ichthyosis (bullous congenital ichthyosiform erythroderma Brocq).

distribution

The frequency is given as 1 - 9 in 1,000,000, inheritance is autosomal - recessive .

root cause

The following mutations have so far been proven to be the cause , compare also lamellar ichthyosis :

  • TGM1 - gene on chromosome 14 locus q11, (most frequent change), which codes for transglutaminase 1
  • ABCA12 gene on chromosome 2 (2q34), which codes for an ATP-binding cassette (ABC) transporter.
  • ALOX12B gene on chromosome 12 (17p13), which codes for arachidonate-12 (R) -lipoxygenase.
  • ALOXE3 gene on chromosome 17 (17p13), which codes for arachidonate lipoxygenase-3.
  • CYP4F22 gene on chromosome 19 (19p13), which codes for cytochrome P450 .
  • NIPAL4 gene on chromosome 5 (5q33), which probably codes for a membrane receptor.

and a locus in chromosomal region 12p11.2-q13.

Clinical manifestations

Clinical criteria are:

  • Erythroderma at birth with fine, white scales
  • Frequently (up to 90%) in newborns, previously weakly developed collodion membrane, which is rejected
  • Itching and soreness of the skin, possibly decreased sensitivity because of the dandruff

In addition, there may be malalignment of the eyelid ( ectropion ) with keratitis and corneal scars, palmo-plantar keratoderma , alopecia , failure to thrive , short stature , heat intolerance, nail dystrophy and hearing loss .

diagnosis

The diagnosis is based on clinical findings. The collodion membrane can be detected prenatally using ultrasound.

Differential diagnosis

The following are to be distinguished:

literature

  • M. Lau, W. Anemüller, B. Tröger, J Fischer, A. Busche: Congenital ichthyosiform erythroderma. Not an everyday complexion . In: Monthly Pediatric Medicine, Volume 165, No. 6, pp. 512-516, doi: 10.1007 / s00112-016-0140-9
  • ML Williams, PM Elias: Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. In: Archives of dermatology. Vol. 121, No. 4, April 1985, pp. 477-488, PMID 3977371 .
  • J. Fischer, A. Faure, B. Bouadjar, C. Blanchet-Bardon, A. Karaduman, I. Thomas, S. Emre, S. Cure, M. Ozgüc, J. Weissenbach, JF Prud'homme: Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. In: American Journal of Human Genetics . Vol. 66, No. 3, March 2000, pp. 904-913, doi: 10.1086 / 302814 , PMID 10712205 , PMC 1288171 (free full text).

Web links

Individual evidence

  1. ↑ a b c d e f Erythroderma, ichthyosiform congenital, non-bullous form. In: Orphanet (Rare Disease Database).
  2. ↑ P. Fleckman: Ichthyosis Research, 2006 FIRST
  3. ^ Gene Reviews
  4. ↑ Erythroderma, ichthyosiform reticular, congenital form. In: Orphanet (Rare Disease Database).
  5. ↑ Peeling Skin Syndrome. In: Orphanet (Rare Disease Database).