A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea
Annals of Dermatology
;
: 396-399, 2011.
Article
in English
| WPRIM
| ID: wpr-204000
ABSTRACT
Mal de Meleda (MDM), also known as keratoderma palmoplantaris transgrediens, is a rare inherited form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands and feet. A 15-year-old Korean female presented with sharply demarcated hyperkeratotic plaques on the palms and soles, which extended to the dorsal surfaces of the hands and feet, in a "glove-and-socks" distribution. The histopathologic study showed marked hyperkeratosis, acanthosis, and normogranulosis, without epidermolysis. Her genetic study detected compound heterozygous mutation in exon 3 of the ARS gene encoding SLURP-1. Family history did not reveal any other affected members and no consanguineous relationship was found. In view of these findings, we diagnosed this case as the first reported sporadic case of MDM in Korea, the farthest location from the endemic island of Meleda.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Papillon-Lefevre Disease
/
Exons
/
Keratoderma, Palmoplantar
/
Erythema
/
Foot
/
Hand
/
Korea
Limits:
Adolescent
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Dermatology
Year:
2011
Type:
Article
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