Case report
Birt-Hogg-Dubé syndrome: two patients with neural tissue tumors

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Abstract

We present 2 unrelated patients found to have tumors of neural tissue origin, a neurothekeoma and a meningioma, who were additionally diagnosed with the syndrome of Birt-Hogg-Dubé (BHDS). We are unaware of previous BHDS patients with neural tissue tumors. In light of recent linkage analysis studies delineating the genetic susceptibility locus for BHDS, we speculate about a possible association between BHDS and neural tissue tumors.

Section snippets

Case 1

A 36-year-old man presented with a 15 to 20–year history of 2 to 4–mm small, whitish, firm facial papules over his face, neck, and ears (Fig 1). The patient reported that his father and 1 of his 3 sisters had similar lesions. His 2 daughters, aged 9 and 12, were developing similar papules. He also had a 6-mm nontender, erythematous papule, which proved to be a neurothekeoma (Fig 1), on his left nasal ala of more recent onset. The initial biopsy of one of the facial papules was examined in the

Discussion

In 1977, Birt, Hogg, and Dubé described small, firm, dome-shaped papular skin lesions distributed over the scalp, forehead, face, and neck in 15 kindred persons.1 The facial papules developed after age 25 years in each of the original 15 patients. These benign pilar tumors were inherited in an autosomal dominant pattern and displayed both ectodermal and mesodermal components. The lesions were diagnosed as fibrofolliculomas, trichodiscomas, and acrochordons; this triad became known as BHDS.

We

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