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Mal de Meleda

Mal de Meleda

OMIM number: 248300

Comments closing date: 09/08/2021

Mal de Meleda is a rare autosomal recessive skin
disorder characterized by transgressive
palmoplantar keratoderma, keratotic skin lesions,
perioral erythema, brachydactyly, and nail
abnormalities. Clinically, the onset of the disease
is typically soon after birth and features a
transgrediens (plantar surface progressing to
dorsal surface) and pattern of hyperkeratosis of
the palms, soles, and joint areas that worsens with
age. Associated hyperhidrosis and superinfection
frequently cause malodorous maceration. The
disease can feature other potentially disfiguring
effects on the hands and feet that can severely
impact function. The progressive lesions can lead
to severe functional handicap with reduced
mobility of hands and feet including spontaneous
amputation of digits.

Review date: 12 July 2023