The fibrous component of fibrofolliculoma
is analogous to the mesenchymally derived fibrous root sheath (B).
(exon 11) Asia Case Pathology of parotid Skin Lung Kidney tumor (Age at (Age, years) (Age, years) diagnosis) 1 Oncocytoma (55) FF PTX, LC -- 2-4 Oncocytoma N/A N/A N/A 5 Oncocytoma (32, FF or PTX (42) CCC (37) right; 43, left) TD 6 Oncocytic FF -- -- neoplasm (45) 7 Oncocytoma FF PTX LC N/A 8 Clear cell -- PTX (45) LC -- oncocytoma (44) Case Family history 1 Sister (PTX, LC) 2-4 N/A 5 Father (hybrid CCC/on with CCC component accounting for 60% of the lesion and sigmoid adenocarcinoma) 6 Maternal grandfather (prostate cancer), maternal grandmother (bladder cancer, lung cancer) 7 N/A 8 Father (PTX) Brother (PTX) M: male: F: female; FF: fibrofolliculoma
; TD: trichodiscomas; PTX: pneumothorax; LC: lung cysts; CCC: clear cell carcinoma; N/A: not available.
The benign tumors are: Trichofolliculoma, Pilar sheath acanthoma, Fibrofolliculoma
, Trichodiscoma, Trichoepithelioma, Trichoblastoma, Trichoadenoma, Pilomartricoma, Trichilemmoma, Trichilemmal horn and Proliferating trichilemmal cyst.
These tumors may occur sporadically or in association with Birt-Hogg-Dube syndrome, which is associated with cutaneous (fibrofolliculoma
, trichodiscoma, or acrochordon) and pulmonary (cysts and pneumothorax) lesions.
is a typical skin finding in patients with Birt-Hogg-Dube syndrome.
The open comedones in Birt-Hogg-Dube are found on the face, neck, chest, and abdomen; on histopathology they represent comedonal or cystic fibrofolliculomas
, demonstrating a dilated hair follicle with proliferation of the perifollicular fibrous sheath and thin epithelial strands emanating from the infundibular portion of the hair follicle .
Birt-Hogg-Dube syndrome is marked by kidney tumors, cystic lung disease, and skin fibrofolliculomas
. It has also been implicated in the formation of tumors in other organs, particularly thyroid and colon though these have had inconsistent reports in the literature [1, 2].
All members in F2 exhibited absence of skin fibrofolliculomas
and were also suspected as a BHD pedigree (Figure 2(a)).
(40) Patients may also develop associated skin manifestations, including cutaneous fibrofolliculomas
, trichodiscomas, and perifollicular fibromas, and are potentially at risk of melanoma.
Birt-Hogg-Dube syndrome (BHDS) was originally described in 1977 and is nowadays known as a rare autosomal dominant cancer disorder characterized by fibrofolliculomas
, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC).
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.