Buschke–Ollendorff syndrome

• Published in: Joint, bone, spine : revue du rhumatisme Vol. 75; no. 2; pp. 212 - 214
• Main Authors: Hassikou, Hasna, Tabache, Fatima, Safi, Soumaya, Baaj, Mohamed, Hadri, Larbi
• Format: Journal Article
• Language: English
• Published: France Elsevier SAS 01.03.2008
• Subjects: Adult; Biopsy; Buschke–Ollendorff syndrome; Chromosome Disorders - diagnosis; Chromosome Disorders - genetics; Collagen - metabolism; DNA-Binding Proteins; Elastic Tissue - metabolism; Female; Hamartoma - diagnosis; Hamartoma - metabolism; Hamartoma - pathology; Humans; Internal Medicine; Membrane Proteins - genetics; Mutation - genetics; Nuclear Proteins - genetics; Osteopoikilosis; Osteopoikilosis - diagnostic imaging; Radiography; Rheumatology; Skin Diseases - diagnosis; Skin Diseases - metabolism; Skin Diseases - pathology; Syndrome; Osteopoikilosis; Buschke–Ollendorff syndrome
• ISSN: 1297-319X; 1778-7254
• DOI: 10.1016/j.jbspin.2007.04.027

Abstract Buschke–Ollendorff syndrome (BOS) is an autosomal dominant disorder characterized by elastin-rich hamartomas and osteopoikilosis. Case report In a 21-year-old woman, osteopoikilosis led to the diagnosis of BOS. She had multiple, grouped, buff-colored papules over the thighs and trunk. There was no pain or pruritus associated with the skin lesions. Examination of a biopsy specimen from a papule showed thick uniform collagen fibers and normal numbers of broad interlacing elastic fibers. Discussion BOS is a rare disease that affects 1/20,000 population. The diagnosis rests on a thorough physical examination and careful examination of radiographs. BOS must be distinguished from other bone abnormalities such as sclerotic bone metastases, particularly when osteopoikilosis is the inaugural manifestation.