BIRT-HOGG-DUBÉ SYNDROME: A CASE REPORT WITH ORAL MANIFESTATION

Abstract

Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disorder characterized by cutaneous papules (fibrofolliculomas, trichodiscomas, and acrochordons), pulmonary cysts, and renal tumors. A 38-year-old man presented with pain in the right upper molars. His medical history included lung cysts due to BHDS, which also affected his mother. Extraoral examination revealed multiple skin-colored dome-shaped papules on his face, neck, ears, and upper thorax. Intraorally, there was mandibular prognathism, abfraction mainly in the posterior teeth, and asymptomatic whitish papules located on the ventral tongue. The panoramic radiograph revealed bone loss around the upper molars. The oral papules were conservatively removed, and microscopic diagnosis was consistent with fibrous hyperplasia covered by stratified epithelium with prominent rete pegs. The patient was submitted to periodontal treatment and long-term follow-up was recommended. We present an illustrative case of BHDS with oral manifestation, which is considered very rare in the literature. Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disorder characterized by cutaneous papules (fibrofolliculomas, trichodiscomas, and acrochordons), pulmonary cysts, and renal tumors. A 38-year-old man presented with pain in the right upper molars. His medical history included lung cysts due to BHDS, which also affected his mother. Extraoral examination revealed multiple skin-colored dome-shaped papules on his face, neck, ears, and upper thorax. Intraorally, there was mandibular prognathism, abfraction mainly in the posterior teeth, and asymptomatic whitish papules located on the ventral tongue. The panoramic radiograph revealed bone loss around the upper molars. The oral papules were conservatively removed, and microscopic diagnosis was consistent with fibrous hyperplasia covered by stratified epithelium with prominent rete pegs. The patient was submitted to periodontal treatment and long-term follow-up was recommended. We present an illustrative case of BHDS with oral manifestation, which is considered very rare in the literature.