Buscke-Ollendorff syndrome: a case report.

Abstract

BACKGROUND Buschke-Ollendorff syndrome (BOS) is a hereditary autosomal-dominant disease that is characterized by the presence of connective tissue nevi and osteopoikilosis. On some occasions it is also associated with melorheostosis. MATERIAL AND METHODS We present the case of a 6-year-old female with Buschke-Ollendorff syndrome associated with melorheostosis from 3 years of age. The patient presented with slight skin lesions on the trunk and lower left limb and deformity of the leg in genu valgus and knee flexion. Imaging tests are performed that are suggestive of the disease and a biopsy of the affected tissue and genetic tests are proposed to confirm it. DISCUSSION Buschke-Ollendorff syndrome presents skin-colored papules on the thighs and buttocks along with punctate sclerotic lesions on the pelvis, hands and feet. Most are asymptomatic, although it may be associated with melorheostosis with subsequent deformity and pain. The pathogenesis of the disease is based on the alteration of the LEMD3 gene function, which is responsible for inhibiting TGF-β and other bone proteins. Its diagnosis is based on clinical characteristics, exclusion of other sclerosing diseases, imaging tests and genetic study. There is currently no curative treatment, but the administration of zoledronate IV and denosumab have been successfully tested. There is controversy with regard to the need for intervention in patients with a high percentage of recurrences. CONCLUSIONS Surgical intervention, of patients with BOS associated with melorheostosis, should be reserved for cases of surgically correctable complications or very severe deformities resistant to other treatments.