Ann Dermatol.  2011 Oct;23(Suppl 2):S188-S192. 10.5021/ad.2011.23.S2.S188.

Genetic Study in a Case of Birt-Hogg-Dube Syndrome

• Park G
• Kim HR
• Na CH
• Choi KC
• Shin BS

• KMID: 2156786
• DOI: http://doi.org/10.5021/ad.2011.23.S2.S188

Abstract

Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominantly inherited disorder characterized by multiple trichodiscomas, fibrofolliculomas, and acrocordons. There is also an increased risk of developing renal neoplasms and lung cysts/spontaneous pneumothorax. We present a 43-year-old man with multiple, 2~4 mm sized, dome-shaped, and skin-colored papules on his cheek and neck. On the basis of clinical finding and histopathologic examination on the cheek lesion, it was diagnosed as multiple trichodiscomas. Subsequently, molecular analysis revealed a mutation in the folliculin gene. We report a rare case of BHDS with a proved gene mutation.

Keyword

Birt-Hogg-Dube syndrome; Fibrofolliculomas; Trichodiscomas

MeSH Terms

Adult
Birt-Hogg-Dube Syndrome
Cheek
Estrone
Humans
Kidney Neoplasms
Lung
Neck
Pneumothorax
Estrone

Figure

• 

  Fig. 1 (A) Multiple firm, skin-colored, 2~4 mm sized, papular lesions distributed on the face and neck area of the patient. (B) The magnified clinical appearance of the papules on the lateral side of the right neck.

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  Fig. 2 (A) Relatively well-defined fibrovascular lesion in the superficial dermis (H&E, original magnification ×40). (B) Higher magnification of central area. Concentric fibrous tissue around follicular epithelium with thin and anastomosing bands separating from adjacent fibrovascular proliferation (H&E, original magnification ×200).

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  Fig. 3 (A) Fibrovascular lesion with vascular proliferation and hair follicle (arrow) at the margin of the lesion (H&E, original magnification ×40). (B) Higher magnification of fibrovascular lesion. Vascular proliferation in coarse connective tissue (H&E, original magnification ×200).

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  Fig. 4 (A) Illustrated FLCN map and (B) the result of sequence analysis of FLCN gene, showing duplication of a cytosine in exon 11 (c.1285 dupC).

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