PAPULAR ELASTORRHEXIS - A VARIANT OF DERMATOFIBROSIS LENTICULARIS DISSEMINATA (BUSCHKE-OLLENDORFF SYNDROME)

Background: Buschke-Ollendorff syndrome is an autosomal dominant disorder clinically characterized by the appearance of disseminated white papules and osteopoikilosis. Histologically most cases show normal collagen and increased elastic tissue. Abortive forms of Buschke-Ollendorff syndrome are described, which show characteristic skin involvement, absence of skeletal changes and decreased elastic tissue. Papular elastorrhexis is characterized by nonfollicular, white papules, decreased elastic tissue, no genetic inheritance and no osteopoikilosis. Objective: Is papular elastorrhexis a new entity or an abortive form of Buschke-Ollendorff syndrome? Methods: We examined three members of one family (brother, sister and mother) presenting with nonfollicular, distributed, white papules on the trunk and extremities. Skin biopsies were examined by histological and electron-microscopic methods. Results: The histological and electron-microscopic examinations of skin biopsies showed decreased, fragmented elastic fibers and normal collagen. By X-ray examination, no osteopoikilosis was found. The family presented here supports a genetic background of the disease. Conclusion: The clinical appearance with the absence of osteopoikilosis and the histological findings of our cases suggest the diagnosis of papular elastorrhexis. Papular elastorrhexis however was reported to be nonfamilial. Because of the genetic background found here we believe that papular elastorrhexis is an abortive form of Buschke-Ollendorff syndrome. Summarizing our data and reviewing the literature, we suggest that connective tissue nevi with the most prominent alterations in the elastic tissue should be classified under the term elastic tissue nevi.