A 26-year-old Japanese woman had epidermolysis bullosa dystrophica et albopapuloidea. The eruptions consisted of nodules, blisters on the extremities, and ivory-white, firm papules, about 5 mm in diameter, on the trunk. Like those of her father and paternal uncles, all of the patient's nails were dystrophic. Urinalysis revealed an increased excretion of degraded chondroitin sulfates. Histologic examination of biopsy specimens obtained from the nodules and blisters showed separation at the dermoepidermal junctional zone; in specimens from albo-papuloid lesions, the papillary and subpapillary layers were slightly homogeneous. Histochemical examination of these lesions revealed an increased amount of degraded chondroitin sulfates in the papillary and subpapillary layers. These results suggest some disturbance in catabolism of acid mucopolysaccharides in the lesions of epidermolysis bullosa dystrophica et albo-papuloidea.
Sasai Y, Saito N, Seiji M. Epidermolysis Bullosa Dystrophica et Albo-Papuloidea: Report of a Case and Histochemical Study. Arch Dermatol. 1973;108(4):554–557. doi:10.1001/archderm.1973.01620250038012
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