[Familial pseudoxanthoma elasticum].
Pseudoxanthoma elasticum is a genodermatosis caused by a change in elastic fibers but with a non well defined biochemical correlate. Its prognosis depends upon the degree of visceral involvement. The appearance of cutaneous lesions allows an early diagnosis. We report here three sisters aged 23, 21, and 19 years with pseudoxanthoma elasticum who had typical cutaneous and retinal lesions. The clinical diagnosis was confirmed by a cutaneous biopsy. To note the high diagnostic yield and minimal morbidity of the cutaneous biopsy for diagnosing this disease.
Revenga Arranz
F
F
Unidad de Dermatología, Hospital Universitario Infanta Cristina, Badajoz.
Gamazo Carrasco
M
M
Nevado López-Alegría
L
L
Pimentel Leo
J
J
D000328:Adult; D004547:Elastic Tissue / Q000473:pathology; D005260:Female; D006801:Humans; D011561:Pseudoxanthoma Elasticum / Q000235:genetics* / Q000473:pathology