Birt-Hogg-Dube Syndrome, a Rare Case in Korea Confirmed by Genetic Analysis

Simple benign tumors can present as part of a syndrome with substantial mortality. Fibrofolliculomas are benign skin tumors most often associated with the Birt-Hogg-Dube syndrome (BHDS). The most life-threatening complication of this syndrome is renal cancer and other major features include multiple lung cysts and spontaneous pneumothorax. We present the case of a 54 year-old man with multiple flesh-colored papules on his face confirmed histologically as fibrofolliculomas. He had a history of recurrent pneumothorax and chest computed tomography showed multiple lung cysts. To confirm the diagnosis of BHDS, we conducted gene analysis that revealed a single nucleotide duplication in the folliculin (FLCN) gene (Exon 11, C.1285dupC). BHDS confirmed by the FLCN gene mutation is rarely reported in Korea. Appropriate investigation is recommended whenever a patient with benign skin tumors is encountered.

A Case of Birt-Hogg-Dube Syndrome

Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant genodermatosis characterized by cutaneous hair follicle tumors (fibrofolliculoma or trichodiscoma), pulmonary cysts, and increased risk of renal neoplasia. The genetic alteration for BHDS has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHDS. Mutations in the BHD gene (also known as FLCN) have been described in the patients with BHDS. We present a case of a 30-yr-old Korean woman with multiple mildly pruritic papules on her face and neck area. The patient had several firm, flesh-colored, dome-shaped, papular lesions measuring between 2 to 5 mm. Except for a history of pneumothorax her medical records were not remarkable. Mutation analysis of the BHD gene was performed, and a novel deletion mutation (p.F519LfsX17 [c.1557delT]) causing truncation of the gene product, folliculin, was found in the exon 14. The actual incidence of BHDS is unknown, but it is most likely underdiagnosed. So it is imperative that doctors recognize the skin lesions of BHDS and institute proper screening to detect other manifestations of the disease. Here, we report a case of BHDS with a novel mutation, which is the first report in Korea.

A Solitary Fibrofolliculoma in the Eyelid

PURPOSE: To report the first case of a solitary eyelid fibrofolliculoma and to review the literature. METHODS: A 37-year-old female patient visited the outpatient department with a lesion in the right upper lid that had been growing steadily for a year. The patient had visited the local clinic, and under the diagnosis of chalazion had received incision and curettage twice, but the lesion had recurred. RESULTS: The 5 x 5 mm lesion was located near the upper lid margin. It was a red, hemispheric, smooth nodule, relatively solid to palpation and not painful. Excision and biopsy were performed, and through a histological exam, the diagnosis of fibrofolliculoma was later confirmed. CONCLUSIONS: Solitary fibrofolliculoma is rare, and to the authors' knowledge, a lesion arising in the eyelid has not yet been reported. Fibrofolliculoma should be included in the differential diagnosis when a localized mass lesion arising in the eyelid is encountered.

A Case of Solitary Fibrofolliculoma / 대한피부과학회지

Fibrofolliculoma is a rare benign follicular neoplasm histopathologically characterized by central dilated follicular infundibulum surrounded by well-circumscribed, thick mantle of fibrotic tissue, with anastomosing strands of follicular epithelium extending into the stroma. This condition usually occurs in multiple and rarely solitarily. Herein we report on a 34-year-old man with a solitary, skin colored, bean sized nodule on his chin which histopathologically shows a typical fibrofolliculoma.

A Case of Solitary Fibrofolliculoma

Fibrofolliculoma is a benign follicular neoplasm which usually occurs in multiple and rarely solitarily. We have found only seven cases of previous reports of solitary fibrofolliculomas worldwide and only two in Korean literature. Herein we report on a 40-year-old female patient with a solitary flesh-colored bean sized mass on the scalp which histopathologically proved to be a fibrofolliculoma.

Solitary Fibrofolliculoma: A case report

The clinical and pathological features of solitary fibrofolliculoma are presented. Solitary fibrofolliculoma is very rarely encountered and to our knowledge, only 7 cases have been reported in the Western literature and no cases have been published in Korea. We experienced a case of solitary fibrofolliculoma occurring in a 56-year-old female, who had a 1.0 cm-sized and slowly growing nodule on her chin. A brief review of the literature, was made especially in relation to the pathological findings and histogenesis of solitary fibrofolliculoma.