MEDNIK syndrome

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

The Mednik syndrome , acronym for M entale retardation, E nteropathie , deafness ( D eafness) Peripheral N europathie, I chthyosie and K eratoderma, is a very rare congenital disease with skin lesions, neurological disorders and bowel disease. It is a special form of erythrokeratodermia variabilis .

Synonyms are: Erythrokeratodermia variabilis 3 ; EKV3; Erythrokeratodermia variabilis of the Kamouraska type.

The name refers to the Canadian community of Kamouraska , where the clinical picture was first described in 2005 by TG Saba and colleagues.

Spread and cause

The frequency is given as less than 1 in 1,000,000, so far only a few families have been described.

Inheritance is autosomal - recessive .

The disease is based on mutations in the AP1S1 gene at location 7q22.1, which codes for the Sigma1a subunit of the AP-1 complex.

Apparently the AP1S1 gene regulates the copper transport proteins in the cell, thus causing a metabolic disorder in the copper cycle. Also compare Wilson's disease and Menkes syndrome .

Clinical manifestations

In addition to the main features that give it its name:

there is a liver disease .

therapy

Treatment of the copper metabolism disorder using zinc acetate appears promising.

Individual evidence

  1. ↑ a b Orphanet MEDNIK syndrome
  2. ↑ a b c EKV3.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ TG Saba, A. Montpetit, A. Verner, P. Rioux, TJ Hudson, R. Drouin, CA Drouin: An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. In: Human genetics. Vol. 116, No. 3, February 2005, pp. 167-171, doi: 10.1007 / s00439-004-1193-8 , PMID 15668823 .
  4. ↑ D. Martinelli, C. Dionisi-Vici: AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. In: Annals of the New York Academy of Sciences. Vol. 1314, May 2014, pp. 55-63, doi: 10.1111 / nyas.12426 , PMID 24754424 .
  5. ↑ D. Martinelli, L. Travaglini, CA Drouin, I. Ceballos-Picot, T. Rizza, E. Bertini, R. Carrozzo, S. Petrini, P. de Lonlay, M. El Hachem, L. Hubert, A. Montpetit, G. Torre, C. Dionisi-Vici: MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. In: Brain . Vol. 136, 2013, pp. 872-881, doi: 10.1093 / brain / awt012 , PMID 23423674 .