The benign tumors are: Trichofolliculoma, Pilar sheath acanthoma, Fibrofolliculoma
, Trichodiscoma, Trichoepithelioma, Trichoblastoma, Trichoadenoma, Pilomartricoma, Trichilemmoma, Trichilemmal horn and Proliferating trichilemmal cyst.
is a typical skin finding in patients with Birt-Hogg-Dube syndrome.
85) Genetic predisposition to the development of ChRCC, particularly so-called hybrid oncocytic/chromophobe tumors that show overlapping features of oncocytoma and ChRCC, is seen in patients with Birt-Hogg-Dube syndrome, which is associated with germline folliculin (FLCN) mutations; these patients often develop multiple, bilateral, oncocytic renal neoplasms, including ChRCC, hybrid oncocytic/chromophobe tumors, and oncocytoma, and may also have characteristic skin (ie, fibrofolliculomas
, trichodiscomas) and lung (ie, subpleural cystic blebs) findings.
40) Patients may also develop associated skin manifestations, including cutaneous fibrofolliculomas, trichodiscomas, and perifollicular fibromas, and are potentially at risk of melanoma.
endoscopy screening Start: Shared guidelines for decision-making colon cancer on a case-by- case basis given paucity of information Gynecologic/ genital Dermatologic Melanoma, Angiofibromas fibrofolliculomas and other and other lesions lesions Dermatologic Dermatologic assessment assessment Start: Diagnosis Start: At Freq: Routine diagnosis Freq: followup not Annual recommended Respiratory Cystic lung LAM disease CT of chest CT of chest and Start: At PFT Start: All diagnosis Freq: adult females or As clinically symptomatic indicated patients Freq: Every 5-10 years if asymptomatic.
Acrochordons are one of the components of Birt-Hogg-Dune syndrome, the other components being fibrofolliculomas
This condition is associated with kidney cancer and is marked by benign fibrofolliculomas
and trichodiscomas that most often occur on the head and neck.
Differential diagnosis: benign neoplasms like lipoma, fibroma, seborrheic keratosis, warts, fibrofolliculomas
and malignant lesions like Angiomyxoma, Dermatofibrosarcoma protuberans.
This includes the ocular and central nervous system hemangioblastomas, pheochromocytomas, or pancreatic tumors indicative of Von Hippel-Lindau syndrome and the fibrofolliculomas
or pulmonary cysts often seen in Birt-Hogg-Dube syndrome.
The other context in which hybrid tumors are frequently encountered is in patients with Birt-HoggDube (BHD) syndrome, an autosomal-dominant genodermatosis, characterized by fibrofolliculomas
, lung cysts, and multifocal renal tumors that include hybrid tumors, ChRCC, clear cell RCC, papillary RCC, and RO.
Birt-Hogg-Dube (BHD) syndrome is a rare condition inherited in an autosomal-dominant fashion and characterized by unique skin lesions (multiple fibrofolliculomas
, trichodiscomas, and acrochordons) and associated internal organ lesions, such as intestinal polyps, renal and lung cysts, and medullary thyroid carcinoma in the original description.