BRRS is an autosomal dominant genodermatosis characterized by GI hamartomatous polyps, macrocephaly, hyperpigmentation of the glans penis, developmental delay and hemangiomas. Germline mutation of the PTEN gene can be detected in 60% of individuals. This syndrome originally described as the triad of macrocephaly, lipomatosis and pigmentation of glans penis. Although BRRS has overlapping features with CS, it is usually diagnosed at younger ages with 68% male predominance. In contrast, CS often occurs later in life and more frequently seen in women. GI manifestations include hamartomatous polyps found in 50% of patients, diarrhea, intussusceptions and anemia. Polyps can be seen in the entire GI tract, however they are more common in distal ileum and colon. BRRS is not associated with CRC or other GI malignancies however these patients are at risk of malignancies of PTEN mutations including breast, thyroid, kidney, and endometrium. The most specific related cutaneous manifestation of BRRS is Hyperpigmented macules involving the glans penis or vulva. Other skin findings include genital lentigines, facial verrucae-like or acanthosis nigricans-like lesions, multiple acrochordons of the neck, axilla, and groin, vascular malformations, and lipomas. Histologically the hyperpigmented lesions appear as lentiginous epidermal hyperplasia, with an increased number of melanosomes and a slight increase in melanocytes. Other reported findings include central nervous system symptoms like hypotonia, delayed psychomotor development, seizures and ocular abnormalities involving retina and cornea. All the patients with BRRS regardless of phenotypic expression are at risk of malignancies. Therefore, comprehensive management focused on early diagnosis by frequent screening of the organs at risk of cancer is required. The current guidelines are similar to CS.
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Jan 01, 1970
Accepted Date: Jan 01, 1970
Published Date: Jan 01, 1970