Meleda disease


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mal de Meleda

An autosomal recessive condition (OMIM:248300) causing symmetric palmoplantar hyperkeratosis and acanthosis, with circumscribed hyperkeratosis of wrists, knees, forearms, ankles, brachydactyly, koilonychia, growth and mental retardation, seen in the endogamous population of the island of Meleda off the coast of Dalmatia in former Yugoslavia.
 
Molecular pathology
Mal de Meleda is caused by a mutation of SLURP1 on chromosome 8q24.3.

Mal de Meleda

An autosomal recessive condition (OMIM:248300) causing symmetric palmoplantar hyperkeratosis and acanthosis, with circumscribed hyperkeratosis of wrists, knees, forearms, ankles, brachydactyly, koilonychia, growth and mental retardation, seen in the endogamous population of the island of Meleda off the coast of Dalmatia in former Yugoslavia.
 
Molecular pathology
Mal de Meleda is caused by a mutation of SLURP1 on chromosome 8q24.3.
References in periodicals archive ?
INTRODUCTION: Mal de Meleda disease was first described by Stulli of Ragusa in 1826, named after Croatian island of Meleda, with wide spectrum of skin manifestations characterized by (1,2) clinical features such as autosomal recessive inheritance with onset of diffuse palmoplantar keratoderma soon after birth associated with transgradience and glove and stocking keratoderma involving dorsa of hands and fingers, feet, toes, flexor aspect of wrist with sharp margin.
Homozygosity at chromosome 8 qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda.
Meleda disease: Report of two cases investigated by electron microscopy.
Two cases of symmetrically palmer and plantar hyperkeratosis (Meleda disease) within brother and sister combined with sever denta.