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Birt-Hogg-Dubé Syndrome

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Deadly Dermatologic Diseases

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Abstract

In 1977, Birt, Hogg, and Dubé described a kindred of 70 individuals, some of whom presented with small skin-colored papules, predominantly of the face. These developed in early adulthood and were noted to be inherited in a dominant pattern. The histomorphology of the papules was described as “abnormal hair follicles with epithelial strands extending out from the infundibulum of the hair follicle into a hyperplastic mantle of specialized fibrous tissue.” The authors applied the term fibrofolliculoma (FF) to these lesions. Also described in these patients were trichodiscomas (TD) and acrochordons. Trichodiscoma is a benign tumor of perifollicular mesenchyme. It is thought to represent a proliferation of the haarscheibe (hair disk), a perifollicular “richly vascularized dermal pad covered with thick epidermis containing Merkel cells and supplied by a thick myelinated nerve the branches of which end at the lower epidermal surface and on the blood vessels of the dermal pad.” It is composed of a dermal interfollicular proliferation of spindle cells in a loose connective tissue matrix with varying amounts of mucin. It may have an orientation parallel to the skin surface. The haarscheibe is thought to represent a mechanoreceptor in animal skin. Its significance in humans is uncertain. The acrochordons in the original description of the syndrome were reported to have histologic findings typical of acrochordons. However, a subsequent study suggests that they have pathologic features of fibrofolliculoma and trichodiscoma. Some patients have also been found to have facial lesions indistinguishable from angiofibroma.

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Authors and Affiliations

  1. Associate Professor of Dermatology and Pathology, MetroHealth Medical Center Case Western Reserve University School of Medicine, Cleveland, OH, USA

    Stephen C. Somach MD

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  1. Stephen C. Somach MD
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Correspondence to Stephen C. Somach MD .

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Editors and Affiliations

  1. Assistant Professor Department of Dermatology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA

    David R. Crowe

  2. Dermpath Diagnostics, Tampa, Florida, USA

    Michael Morgan

  3. MetroHealth Medical Center, Cleveland, Ohio, USA

    Stephen Somach

  4. Washington, District of Columbia, USA

    Kara Trapp

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Somach, S.C. (2016). Birt-Hogg-Dubé Syndrome. In: Crowe, D., Morgan, M., Somach, S., Trapp, K. (eds) Deadly Dermatologic Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-31566-9_11

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  • DOI: https://doi.org/10.1007/978-3-319-31566-9_11

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-31564-5

  • Online ISBN: 978-3-319-31566-9

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