Keratoderma hereditaria mutilans. Etretinate treatment and electron microscope studies.
Keratoderma hereditaria mutilans is a rare inherited cornification disorder characterized by hyperkeratosis of palms and soles with a characteristic "honey-comb" appearance, keratotic constriction furrows of one or more digits (pseudo-ainhum) and threatening spontaneous amputation. Approximately 30 cases have been reported, but the ultrastructural features have not been well characterized. In this article, we describe the clinical, histologic, and ultrastructural findings in our patient. A biopsy specimen taken before treatment with etretinate showed hyperkeratosis with a well-preserved granular layer and acanthosis. Ultrastructural examination disclosed that the spinous cells and granular cells contained marked swollen mitochondria, many desmosomes, and that corneocytes contained many membrane coating granules (MCG) and lipid like vacuoles. After initiation of treatment, considerable clinical improvement was observed, but without significant histologic modification. The principal post-treatment ultrastructural changes were the reduction of mitochondrial swelling in spinous and granular cells and the reduction in the number of MCG in corneocytes. The intercellular spaces showed increased amounts of fine and coarse granular substances. Stimulation of Langerhans cells was observed. Marginal band formation occurred normally after treatment.
Palungwachira
P
P
Institute of Dermatology, Bangkok, Thailand.
Iwahara
K
K
Ogawa
H
H
D000328:Adult; D005050:Etretinate / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000188:drug therapy* / Q000473:pathology; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
D005050:Etretinate