Erythrokeratodermia variabilis

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Classification according to ICD-10
Q82.8 Hereditary palmoplantar keratosis
ICD-10 online (WHO version 2019)

The Erythrokeratodermia variabilis is a very rare congenital diseases from the group of Erythrokeratodermien , a ichthyosiform dermatoses with figurative variable erythema and hyperkeratosis.

Synonyms are: Erythrokeratoderma variabilis type Mendes da Costa ; EKV; Erythrokeratoderma variabilis et progressiva ; Erythrokeratodermia figurata variabilis ; EKVP ; Keratitis rubra figurata (groove) ; Mendes da Costa syndrome

The names refer to the first authors of descriptions such as in 1922 by F. Rille and in 1925 by the dermatologist Samuel Mendes Da Costa (1862–1943), who coined the name “Erythro- et keratodermia variabilis”.

distribution

The frequency is unknown; more than 200 patients have been described to date. It is inherited in an autosomal dominant or autosomal recessive manner .

causes

Apparently, there are heterozygous mutations in the genes that code for connexin . There also appears to be an autosomal recessive form with mutations in the GBJ3 gene.

classification

Depending on the underlying genetic change, the following forms can be distinguished:

  • Erythrokeratodermia variabilis with erythema gyratum repens with mutations in the GJB4 gene at location 1p34.3 for connexin-30.3
  • Erythrokeratodermia variabilis et progressiva with mutations in the GJB3 gene at the 1p34.3 gene locus for connexin-31
  • Erythrokeratodermia variabilis et progressiva with mutations in the GJA1 gene at the 6q22.31 gene locus for connexin-43

Clinical manifestations

Clinical criteria are:

  • Start after birth or in toddler age
  • Rapidly progressing and receding redness of the skin
  • Hyperkeratoses of considerable extent, possibly with functional impairment
  • Main location on the face, extremities and buttocks
  • Palms and soles are mostly left out or are involved in up to 50%

Differential diagnosis

Differential diagnostics are to be distinguished:

therapy

Treatment with aromatic retinoid or acitretin leads to good results.

Prospect of healing

The disease shows a tendency to regress spontaneously.

history

Already in 1907 the disease was described by LM De Buy Wenninger .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ Medscape
  3. ↑ Erythrokeratodermia variabilis. In: Orphanet (Rare Disease Database).
  4. ↑ a b c d e Altmeyer, Online Encyclopedia Dermatology
  5. ↑ a b EKVP.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ F. Rille: Illness presentations. In: Zeitschrift für Hautkrankheiten 1922–1923, Vol. 7, p. 161.
  7. ↑ S. Mendes da Costa: Eythro- et keratodermia variabilis in a mother and a daughter. In: Acta Dermato-Venereologica 1925, Vol. 6, pp. 255-261.
  8. ↑ D. Fuchs-Telem, Y. Pessach, B. Mevorah, I. Shirazi, O. Sarig, E. Spokesman: Erythrokeratoderma variabilis caused by a recessive mutation in GJB3. In: Clinical and Experimental Dermatology . Vol. 36, No. 4, June 2011, pp. 406-411, doi : 10.1111 / j.1365-2230.2010.03986.x , PMID 21564177 .
  9. ↑ EKVP.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ LM de Buy Wenninger: Erythrokeratodermie congenitale ichthyosiform avec hyperepidermotrophie. In: Verslagen van vereeningingene. Nederl Tijdschr Geneesk . 1907, Vol. 1A, pp. 510-5.