Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome
M. C. Fargnoli, S. J. Orlow, J. Semel-Concepcion and J. L. Bolognia
Department of Dermatology, Yale University School of Medicine, New Haven, Conn, USA.
BACKGROUND: The term Bannayan-Riley-Ruvalcaba syndrome has been proposed to
reflect the clinical overlap of 3 conditions previously described as
separate entities, each inherited in an autosomal dominant fashion. They
are the Riley-Smith, Bannayan-Zonana, and Ruvalcaba-Myhre-Smith syndromes.
OBSERVATIONS: We studied 2 kindreds with the Bannayan-Riley-Ruvalcaba
syndrome. Characteristic cutaneous findings included multiple subcutaneous
lipomas and vascular malformations, lentigines of the penis and vulva,
verrucae, and acanthosis nigricans. Macrocephaly with normal ventricular
size, mental retardation, central nervous system vascular malformations,
intestinal polyposis, skeletal abnormalities, and thyroid tumors were the
most common systemic featues. A striking clinical finding in 1 patient was
widespread verrucous changes of both lips that histologically showed
epidermal hyperplasia with papillomatosis and hyperkeratosis. Biopsy
specimens of facial papules demonstrated the histological features of both
syringomas and trichilemmomas. Lentiginous hyperplasia of the epidermis
with increased pigment in the basal layer and a slight increase in the
number of melanocytes were seen in biopsy specimens of the penile
lentigines. CONCLUSIONS: The histologic findings of both the facial lesions
and the pigmented macules of the penis in the Bannayan-Riley-Ruvalcaba
syndrome have not, to our knowledge, been reported previously. The
similarities between the Bannayan-Riley-Ruvalcaba syndrome and Cowden
disease raise the possibility of a common genetic pathogenesis for these 2
diseases.
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