J Korean Med Sci.  2008 Apr;23(2):332-335. 10.3346/jkms.2008.23.2.332.

A Case of Birt-Hogg-Dube Syndrome

• Kim EH
• Jeong SY
• Kim HJ
• Kim YC

• KMID: 1713471
• DOI: http://doi.org/10.3346/jkms.2008.23.2.332

Abstract

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.

Keyword

Birt-Hogg-Dube Syndrome; Fibrofolliculoma, Trichodiscoma

MeSH Terms

Adult
Biopsy
DNA Mutational Analysis
Diagnosis, Differential
Estrone/biosynthesis
Exons
Female
Gene Deletion
Genetic Predisposition to Disease
Humans
Kidney Neoplasms/genetics
Models, Genetic
Mutation
Skin Diseases/diagnosis/*genetics
Syndrome

Figure

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  Fig. 1 Multiple small dome-shaped, flesh-colored papules on the face and neck.

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  Fig. 2 (A) Concentric layers of cellular fibrous tissue around hair follicles representing perifollicular fibroma (hematoxylin-eosin stain; original magnification ×40, inset ×200). (B) Raised papule composed of connective tissue surrounded by a lateral collarette representing trichodiscoma (hematoxylin-eosin stain; original magnification ×40, inset ×200).

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  Fig. 3 Sequence analysis of the Birt-Hogg-Dubé gene, showing deletion of a thymidine in the exon 14 (c.2012delT).

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  Fig. 4 Distribution of mutations reported in Birt-Hogg-Dubé syndrome.

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