Aydın Şimşek Şafak, Cengiz Tolgahan, Muslu Oğuzhan, Albayrak Bedirhan, Büyükceran İsmail, Coşkun Hüseyin Sina, Dabak Nevzat
Department of Orthopaedics and Traumatology, Ondokuz Mayıs University, Faculty of Medicine, Samsun, TUR.
Department of Orthopaedics and Traumatology, Hatay Training and Research Hospital, Hatay, TUR.
Cureus. 2023 Apr 24;15(4):e38074. doi: 10.7759/cureus.38074. eCollection 2023 Apr.
Buschke-Ollendorff syndrome is a rare, often benign, autosomal dominant skin disorder. This syndrome commonly presents with non-tender connective tissue nevi and sclerotic bony lesions. Characteristic skeletal findings such as melorheostosis and hyperostosis are usually present. Most cases are detected incidentally. Skin lesions appear first and become less noticeable with age. Bone lesions occur in the later decades of life. Another rarely associated symptom, melorheostosis, is manifested by the appearance of wax running through the cortex of the bone. Plain radiographs usually show cortical hyperostosis. This study aims to present a case report of Buschke-Ollendorff syndrome from an orthopedic aspect and emphasize the importance of the disease since it can be easily assessed as a bone tumor. Second, to the best of our knowledge, this is the first case presented with a unilateral genu valgum deformity with a long-term follow-up in the relevant literature.
布希克-奥伦多夫综合征是一种罕见的、通常为良性的常染色体显性遗传性皮肤病。该综合征通常表现为无痛性结缔组织痣和硬化性骨病变。通常会出现诸如骨干发育异常和骨质增生等特征性骨骼表现。大多数病例是偶然发现的。皮肤病变先出现,随着年龄增长会变得不那么明显。骨病变发生在生命的后几十年。另一种罕见的相关症状,骨干发育异常,表现为骨质表面有蜡样物质流动。X线平片通常显示皮质骨质增生。本研究旨在从骨科角度呈现一例布希克-奥伦多夫综合征的病例报告,并强调该疾病的重要性,因为它很容易被误诊为骨肿瘤。其次,据我们所知,这是相关文献中首例伴有长期随访的单侧膝外翻畸形的病例。