Mal de Meleda

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

Mal de Meleda is a very rare special form of erythrokeratoderma from birth with the main features of a symmetrical palmoplantar keratosis with subsequent expansion to the back of the hand and foot . Synonyms are: Keratosis palmoplantaris transgrediens; Keratosis palmoplantaris transgrediens Siemens; Meleda disease; Erythrokeratodermia extremitatum symmetrica et hyperchromia dominans Kogoj.

The name refers to the Italian name of the Croatian island of Mljet , where the first observations were made and the disease is said to be common. The names refer to the first author of a description from 1934 by the Yugoslav dermatologist Franjo Kogoj (1894–1983) or to the German dermatologist Hermann Werner Siemens and his work on the systematics of skin diseases.

distribution

The frequency is not known, the inheritance is done autosomal - recessive . Boys are mainly affected.

root cause

The disease is based on mutations in the SLURP1 gene at gene location 8q24.3.

Clinical manifestations

Clinical criteria are:

  • Manifestation in infancy
  • Sharply demarcated symmetrical erythrokeratoderma with dark pigmented hyperkeratosis limited to the extremities and neck
  • Partly reticulate hyperpigmentation

history

The first description was probably made by NI Neumann in 1989 to 5 families.

Individual evidence

  1. ↑ a b c or becomes 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. ↑ Mal de Meleda. In: Orphanet (Rare Disease Database).
  3. ↑ F. Kogoj: The disease of Mljet ("Mal de Meleda") In: Acta Dermato-Venereologica , Stockholm, Vol. 15, 1934, pp. 264-299.
  4. ↑ F. KOGOJ: Erythrokeratodermia extremitatum symmetrica et hyperchromia dominans. In: Journal of Skin and Venereal Diseases. Vol. 20, No. 7, April 1956, pp. 187-192, PMID 13325675 .
  5. ^ HW Siemens: Poetry and Truth about the Ichthyosis Bullosa, with remarks on the systematics of epidermolyses. In: Archive for Dermatology and Syphilis , Berlin, Vol. 175, 1937, pp. 590–608.
  6. ↑ Meleda disease.  In: Online Mendelian Inheritance in Man . (English)
  7. ^ NI Neumann: About the Keratoma hereditarium. In: Archive for Dermatology and Syphilis , Berlin, Vol. 42, 1898, pp. 163–174.
  8. ^ Who named it Meleda syndrome

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