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Pseudoxanthoma Elasticum in Hyperphosphatasia.—Presented by Ana M. Eng, MD
A 12-year-old girl had asymptomatic erythematous macules of six weeks' duration, on the sides of her neck, antecubital fossae, and thighs. Some of the lesions faded after a few weeks, while others became more papular and firm. She was admitted to the hospital for a work-up of her congenital systemic bone dysplasia, previously diagnosed as hyperphosphatasia. Her problem of decreased hearing started after a post-tonsillectomy "measles episode" at the age of 3 years. At the age of 10 years, she was noted to have numerous loose teeth, enlargement of the knees and fingers and perceptive deafness.Her grandmother has diabetes mellitus requiring insulin therapy. Her mother is 34 years old, deaf, edentulous since age 17, and also has bony deformities of all the joints. The mother's condition was diagnosed as hyperphosphatasia on the basis of a high serum alkaline phosphatase
Fretzin DF. CHICAGO DERMATOLOGICAL SOCIETY. Arch Dermatol. 1975;111(2):271-272. doi:10.1001/archderm.1975.01630140129023