Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome.
Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors--fibrofolliculomas, trichodiscomas, and acrochordons--together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofibromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofibroma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood.
Schaffer
Julie V
JV
Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 06520, USA. julie.schaffer@yale.edu
Gohara
Mona A
MA
McNiff
Jennifer M
JM
Aasi
Sumaira Z
SZ
Dvoretzky
Israel
I
D000328:Adult; D018322:Angiofibroma / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005153:Facial Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D025521:Tumor Suppressor Proteins; D014430:Twins, Monozygotic
C476078:FLCN protein, human; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins