Buschke-Ollendorff syndrome (disseminated dermatofibrosis with osteopoikilosis)

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Abstract
The case is reported of a woman, 47 yr old, with disseminated dermatofibrosis associated with osteopoikilosis. Her 2 children also showed skin lesions typical of the Buschke-Ollendorff syndrome which were present at birth. Disseminated dermatofibrosis is a rare, dominantly inherited syndrome characterized in its complete form, the Buschke-Ollendorff syndrome, by the association of osteopoikilosis with extensive symmetrical nodular fibrosis of the dermis. Disseminated dermatofibrosis can be confined to the skin, and osteopoikilosis can occur alone or with elastic-tissue nevi. Cutaneous changes usually first appear in adult life. Skin colored papules and sometimes nodules occur which tend to be symmetrically distributed. The skeletal changes are symptomless and detectable only radiologically. Histologically a typical skin lesion shows a focus of fibromatous thickening of the dermis without destruction of the elastic fibers. There is no sharp line of demarcation from the normal dermis and no evidence of inflammatory reaction. Subcutaneous fibrosis may also occur and in some lesions elastic fibers may be increased and/or show thickening and clumping.