CASE REPORTS   

Esperienze Dermatologiche 2014 September;16(3):133-5

Copyright © 2014 EDIZIONI MINERVA MEDICA

language: Italian

Buschke-Ollendorff syndrome: a case report

Pesapane F., Nazzaro G., Coggi A., Gianotti R.

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Unità Operativa di Dermatologia, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italia

Buschke-Ollendorff syndrome is a rare, hereditary disorder of the connective tissue. It is mainly characterized by benign, connective tissue cutaneous nevi, as well as osteopoikilosis. In some individuals both the skin and bone are affected, while in others skin or bone manifestations may lack. Buschke-Ollendorff syndrome is caused by mutations in LEMD3 gene, encoding a protein involved in bone and connective tissue morphogenesis. The clinical course is usually benign and mortality has not increased. Surgical excision of skin lesions is sometimes performed for cosmetic reasons in some patients. We report a case of a young woman who presented with multiple cutaneous papules and nodules, similar to those found in the mother, histologically compatible with elastic nevi. Subsequently femur radiography showed osteopoikilosis.