mal de Meleda

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mal de Meleda2016-12-06T14:06:19+00:00

mal de Meleda

DERMATOLOGY

A rare autosomal recessive condition (OMIM:248300) characterised by symmetric palmoplantar hyperkeratosis and acanthosis, with circumscribed hyperkeratosis of wrists, knees, forearms, ankles, brachydactyly, koilonychia, growth and mental retardation, seen in the inbred population of the island of Meleda off the coast of Dalmatia in former Yugoslavia, which now is part of Croatia.

Molecular pathology Defects of SLURP1, which encodes a protein thought to be involved in maintaining the structural and functional integrity of keratinocytes, cause mal de Meleda. 

Synonyms Acral keratoderma, keratosis palmoplantaris transgradiens of Siemans, MDM, Meleda disease, Mljet disease, mutilating palmoplantar keratoderma–Gamborg-Nielsen type, palmoplantar ectodermal dysplasia type VIII, palmoplantar keratoderma–Norbotten type 

References http://www.uniprot.org/uniprot/P55000

http://www.omim.org/entry/248300

http://en.wikipedia.org/wiki/Meleda_disease

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