Exfoliative ichthyosis

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Classification according to ICD-10
Q80.8 Other congenital ichthyosis
ICD-10 online (WHO version 2019)

The Exfoliative ichthyosis , of exfoliation , detachment of cells, especially of the superficial cell layers of the epithelium , is a very rare congenital to the ichthyosis counting skin disease .

However, the term is also used differently as a synonym :

The synonyms are accordingly broad: ichthyosis, exfoliative, autosomal recessive; AREI; Peeling skin syndrome 4; PSS4; Peeling skin syndrome 5; PSS5; Ichthyosis Bullosa of Siemens-Like

According to the Orphanet database , exfoliative ichthyosis corresponds to peeling skin syndrome type 4 ( PSS4 )

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

root cause

The disease are mutations in the CSTA - gene on chromosome 3 locus q21.1 based encoding cystatin A.

Variants with other genetic changes can occur.

Clinical manifestations

Clinical criteria are:

  • Manifestation in childhood
  • Peeling skin on the palms of the hands and feet (palmoplantar)
  • Deterioration due to moisture and hindrance to skin breathing (humid chamber)
  • Dry, flaky skin on the rest of the body
  • Possibly itching and decreased sweating

Histologically reduced cell adhesion in the epidermis , conspicuous cell edema, numerous accumulations of keratin filaments in the basal keratinocytes and disruption of the "epidermal barrier".

literature

  • Manuela Pigors, Ofer Sarig, Lisa Heinz, Vincent Plagnol, Judith Fischer, Janan Mohamad, Natalia Malchin, Shefali Rajpopat, Monia Kharfi, Giles G. Lestringant, Eli Sprecher, David P. Kelsell, Diana C. Blaydon: Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. In: The American Journal of Human Genetics . Vol. 99, 2016, p. 430, doi : 10.1016 / j.ajhg.2016.06.004 .
  • V. Moosbrugger-Martinz, A. Jalili, AS Schossig, K. Jahn-Bassler, J. Zschocke, M. Schmuth, G. Stingl, KM Eckl, HC Hennies, R. Gruber: Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. In: The British Journal of Dermatology . Vol. 172, No. 6, June 2015, pp. 1628-1632, doi : 10.1111 / bjd.13545 , PMID 25400170 .
  • DC Blaydon, D. Nitoiu, KM Eckl, RM Cabral, P. Bland, I. Hausser, DA van Heel, S. Rajpopat, J. Fischer, V. Oji, A. Zvulunov, H. Traupe, HC Hennies, DP Kelsell : Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. In: American Journal of Human Genetics . Vol. 89, No. 4, October 2011, pp. 564-571, doi : 10.1016 / j.ajhg.2011.09.001 , PMID 21944047 , PMC 3188842 (free full text).
  • I. Hausser, I. Anton-Lamprecht: Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. In: Pediatric dermatology. Vol. 13, No. 3, 1996 May-Jun, pp. 183-199, PMID 8806118 .

Individual evidence

  1. ↑ a b c Ichthyosis, exfoliative ORPHA: 289586. In: Orphanet (Rare Disease Database).
  2. ↑ L. El Shabrawi-Caelen, J. Smolle, D. Metze, G. Ginter-Hanselmayer, M. Raghunath, H. Traupe, H. Kerl: Generalized exfoliative erythroderma since birth. Netherton syndrome. In: Archives of dermatology. Vol. 140, No. 10, October 2004, pp. 1275-1280, doi : 10.1001 / archderm.140.10.1275-a , PMID 15492197 .
  3. ↑ Ichthyosis bullosa of Siemens.  In: Online Mendelian Inheritance in Man . (English)
  4. ^ Rare diseases
  5. ↑ Uptodate
  6. ^ Peeling skin syndrome 4th  In: Online Mendelian Inheritance in Man . (English)
  7. ^ Research4Rare
  8. ↑ SJ Hatsell, H. Stevens, AP Jackson, DP Kelsell, A. Zvulunov: An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. In: The British journal of dermatology. Vol. 149, No. 1, July 2003, pp. 174-180, PMID 12890214 .

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