Buscke-Ollendorff syndrome: a case report.

BACKGROUNDBuschke-Ollendorff syndrome (BOS) is a hereditary autosomal-dominant disease that is characterized bythe presence of connective tissue nevi and osteopoikilosis. On some occasions it is also associated withmelorheostosis.MATERIAL AND METHODSWe present the case of a 6-year-old female with Buschke-Ollendorff syndrome associated withmelorheostosis from 3 years of age. The patient presented with slight skin lesions on the trunk and lower leftlimb and deformity of the leg in genu valgus and knee flexion. Imaging tests are performed that aresuggestive of the disease and a biopsy of the affected tissue and genetic tests are proposed to confirm it.DISCUSSIONBuschke-Ollendorff syndrome presents skin-colored papules on the thighs and buttocks along withpunctate sclerotic lesions on the pelvis, hands and feet. Most are asymptomatic, although it may beassociated with melorheostosis with subsequent deformity and pain. The pathogenesis of the disease isbased on the alteration of the LEMD3 gene function, which is responsible for inhibiting TGF-β and otherbone 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 ofzoledronate IV and denosumab have been successfully tested. There is controversy with regard to theneed for intervention in patients with a high percentage of recurrences.CONCLUSIONSSurgical intervention, of patients with BOS associated with melorheostosis, should be reserved for cases ofsurgically correctable complications or very severe deformities resistant to other treatments.