TY  - BOOK
AU  - Aivaz, Ohara
TI  - Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
PY  - 2015///
KW  - *Birt-Hogg-Dube Syndrome/di [Diagnosis]
KW  - *Facial Neoplasms/pa [Pathology]
KW  - *Fibroma/pa [Pathology]
KW  - *Hair Follicle
KW  - *Neoplasms, Multiple Primary/pa [Pathology]
KW  - *Skin Neoplasms/pa [Pathology]
KW  - Adult
KW  - Aged
KW  - Diagnosis, Differential
KW  - Facial Neoplasms/ge [Genetics]
KW  - Female
KW  - Fibroma/ge [Genetics]
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Neoplasms, Multiple Primary/ge [Genetics]
KW  - Proto-Oncogene Proteins/ge [Genetics]
KW  - Skin Neoplasms/ge [Genetics]
KW  - Tumor Suppressor Proteins/ge [Genetics]
KW  - MedStar Washington Hospital Center
KW  - Dermatology
KW  - Case Reports
KW  - Journal Article
KW  - Research Support, N.I.H., Extramural
N2  - CONCLUSIONS AND RELEVANCE: Comedonal or cystic fibrofolliculomas are a variant of fibrofolliculomas that have not previously been well characterized in patients with BHD and represent a novel diagnostic clue to its early detection and diagnosis. Expanding the phenotypic features of BHD facilitates earlier diagnosis of the syndrome, which allows for early surveillance of renal cancer in affected patients as well as disease screening in their relatives; IMPORTANCE: The differential diagnosis of extensive open comedones includes inherited genetic syndromes and several acquired conditions. Birt-Hogg-Dube syndrome (BHD) is not typically included in the differential diagnosis of syndromes with comedonal lesions. Given the potentially life-threatening systemic complications associated with BHD, early recognition and diagnosis of the condition is important; OBSERVATIONS: We describe comedonal or cystic fibrofolliculomas in 4 patients with BHD. Cutaneous lesions were identified on the face, neck, chest, and abdomen
UR  - http://dx.doi.org/10.1001/jamadermatol.2015.0215
ER  -