CLINICOPATHOLOGICAL FINDINGS IN THE BANNAYAN-RILEY-RUVALCABA-SYNDROME

Background: The term Bannayan-Riley-Ruvalcaba syndrome has been propos ed to reflect the clinical overlap of 3 conditions previously describe d as separate entities, each inherited in an autosomal dominant fashio n. They are the Riley-Smith, Bannayan-Zonana, and Ruvalcaba-Myhrt-Smit h syndromes. Observations: We studied 2 kindreds with the Bannayan-Ril ey-Ruvalcaba syndrome. Characteristic cutaneous findings included mult iple subcutaneous lipomas and vascular malformations, lentigines of th e penis and vulva, verrucae, and acanthosis nigricans. Macrocephaly wi th normal ventricular size, mental retardation, central nervous system vascular malformations, intestinal polyposis, skeletal abnormalities, and thyroid rumors were the most common systemic features. A striking clinical finding in 1 patient was widespread verrucous changes or bot h lips that histologically showed epidermal hyperplasia with papilloma tosis and hyperkeratosis. Biopsy specimens of facial papules demonstra ted the histological features of both syringomas and trichilemmomas. L entiginous hyperplasia of the epidermis with increased pigment in the basal layer and a slight increase in the number of melanocytes were se en in biopsy specimens of the penile lentigines. Conclusions: The hist ologic findings of both the facial lesions and the pigmented macules o f the penis in the Bannayan-Riley-Ruvalcaba syndrome have not, to our knowledge, been reported previously. The similarities between the Bann ayan-Riley-Ruvalcaba syndrome and Cowden disease raise the possibility of a common genetic pathogenesis for these 2 diseases.