ARTICLE
Diagnosis and comments: Birt-Hogg-Dubé
syndrome
Our patient had skin-colored, dome-shaped nodules which were histopathologically
confirmed to be a typical trichodiscoma (Fig.
2a, b). One of the excised lesions showed some of the changes
of fibrofolliculoma (Fig. 2c).
No other family members of our patient were examined but, based on the
history, two brothers of the patient were suspected to have the same disease.
Taken together, our case represents an example of the Birt-Hogg-Dubé
syndrome [1], an autosomal dominant condition, which is a triad of cutaneous
lesions consisting of fibrofolliculomas, trichodiscomas and acrochordons.
The connective tissue component of the pilar apparatus gives rise to three
different forms of proliferative disorders, namely perifollicular fibroma,
fibrofolliculoma and trichodiscoma. Trichodiscoma, so far observed only
in multiple form, has been considered to be a fibrovascular hamartoma
of the dermal component of the hair disc [2]. Multiple trichodiscomas
may be observed either in a pure form or in association with perifollicular
fibromas or fibrofolliculomas. Although the histological characteristics
of trichodiscoma, its constant topographical relation to hair follicles
and complex composition of mucinous and richly vascularized fibrous tissue,
are similar to those of the hair disc [3], the histogenesis of trichodiscoma
has been under debate [4]. More recently, these three hamartomas have
been classified into one category, namely follicular fibroma, which is
regarded as a proliferative disorder of the fibrous sheath or mesenchymal
papilla of the hair follicle [5]. And tichodiscomas, fibrofolliculomas
and acrochordons in Birt-Hogg-Dubé syndrome have been considered
to be variations of a single pathological process [6]. Colonic polyposis
or colonic cancer has been reportedly associated with Birt-Hogg-Dubé
syndrome or with multiple perifollicular fibromas in several cases [7-9].
Although our patient and his brother had colonic polyps, those lesions
could be an age-related change. It is possible that the diagnosis of asymptomatic
intestinal disease was missed in some previously reported cases and it
is necessary to look for internal lesions in this syndrome. Recently three
kindreds in whom renal neoplasms and Birt-Hogg-Dubé syndrome appeared
together was reported [10], however, it still remains controversial whether
or not these hamartomas are in reality paraneoplastic dermatoses.
Article accepted on 21/3/00
REFERENCES
1. Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas
with trichodiscomas and acrochordons. Arch Dermatol 1977; 113:
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2. Pinkus H, Coskey R, Burgess GH. Trichodiscoma. A benign tumor
related to Haarscheibe (Hair disc). J Invest Dermatol 1974; 63:
212-8.
3. Smith KR. The Haarscheibe. J Invest Dermatol 1977;
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4. Ackerman AB, Viragh PA, Chongchitnant N. Fibrofolliculoma
and trichodiscoma. In: Neoplasms with follicular differentiation.
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5. Murphy GH, Elder DE. Follicular Fibromas. In: Rosai J, ed.
Atlas of tumor pathology. Non-melanocytic tumors of the skin. Washington:
Armed forces institute of pathology, 1990: 146-7.
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are not a component of the Birt-Hogg-Dubé syndrome. Am J Dermatopathol
1999; 21: 369-74.
7. Rongioletti F, Hazini R, Gianotti G, Rebora A. Fibrofolliculomas,
trichodiscomas and acrochordons (Birt-Hogg-Dubé) associated with
intestinal polyposis. Clin Exp Dermatol 1989; 14: 72-4.
8. Hornstein OP. Generalized dermal perifollicular fibromas with
polyps of the colon. Hum Genet 1976; 33: 193-7.
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fibromas and colonic polyp and cancer. Dermatology 1996; 192: 262-3.
10. Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B,
Linchan M, Turner ML. Brit-Hogg-Dubé syndrome. Arch Dermatol
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