Fibrofolliculomas with trichodiscomas and acrochordons
Fibrofolliculomas with Trichodiscomas and Acrochordons Fibrofolliculomas with trichodiscomas and acrochordons are rare skin lesions associated with Birt-Hogg-Dub syndrome, a genetic condition that predisposes individuals to skin lesions, lung cysts, and renal tumors. This article provides a comprehensive overview of the condition, its clinical features, genetic basis, diagnosis, and management.
Clinical Features[edit | edit source]
Fibrofolliculomas, trichodiscomas, and acrochordons are benign skin lesions that typically appear in adulthood.
Fibrofolliculomas[edit | edit source]
Fibrofolliculomas are small, dome-shaped papules that are usually skin-colored or white. They are most commonly found on the face, neck, and upper trunk. Histologically, they are characterized by an overgrowth of fibrous tissue around hair follicles.
Trichodiscomas[edit | edit source]
Trichodiscomas are similar in appearance to fibrofolliculomas but are histologically distinct. They are also small, skin-colored papules and are often found in the same areas as fibrofolliculomas.
Acrochordons[edit | edit source]
Acrochordons, commonly known as skin tags, are soft, pedunculated lesions that can occur anywhere on the body but are frequently found in areas of skin folds such as the neck, armpits, and groin.
Genetic Basis[edit | edit source]
Fibrofolliculomas with trichodiscomas and acrochordons are associated with mutations in the FLCN gene, which encodes the protein folliculin. This gene is located on chromosome 17p11.2. Mutations in FLCN lead to the development of Birt-Hogg-Dub syndrome.
Diagnosis[edit | edit source]
Diagnosis of fibrofolliculomas with trichodiscomas and acrochordons is primarily clinical, based on the appearance of the skin lesions. A biopsy may be performed to confirm the diagnosis by histological examination. Genetic testing for mutations in the FLCN gene can confirm the diagnosis of Birt-Hogg-Dub syndrome.
Management[edit | edit source]
Management of fibrofolliculomas, trichodiscomas, and acrochordons is usually cosmetic. Lesions can be removed by various dermatological procedures such as laser therapy, electrosurgery, or excision. Regular monitoring for associated conditions, such as renal tumors, is recommended for individuals with Birt-Hogg-Dub syndrome.
See Also[edit | edit source]
External Links[edit | edit source]
- [Genetic and Rare Diseases Information Center]
- [DermNet NZ on Birt-Hogg-Dub syndrome]
NIH genetic and rare disease info[edit source]
Fibrofolliculomas with trichodiscomas and acrochordons is a rare disease.
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Contributors: Prab R. Tumpati, MD
