A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea

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.

Keywords: Mal de Meleda; Palmoplantar keratoderma; SLURP-1; Transgrediens.

Fig. 1

(A~D) Well-demarcated hyperkeratotic plaque, involving the palms and soles. Note the hyperkeratosis of the dorsa of the hands and feet. Constricting band-like lesions around digits, particularly the 2nd to 4th fingers in both hands, are shown.

Fig. 2

Pedigree of the patient.

Fig. 3

Marked hyperkeratosis and acanthosis on the middle of sole (H&E, scanning view) (A), PAS-positive spores and hyphae in the stratum corneum (×200) (B).