Buschke Ollendorff Syndrome OMIM

Description: #166700 BUSCHKE-OLLENDORFF SYNDROME Alternative titles; BOS DERMATOOSTEOPOIKILOSIS DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS OSTEOPATHIA CONDENSANS DISSEMINATA OSTEOPOIKILOSIS, ISOLATED, INCLUDED Gene map locus 12q14 A number sign (#) is used with this entry because of evidence that osteopoikilosis with or without the skin manifestations of Buschke-Ollendorff syndrome and with or without melorheostosis (155950) can be caused by heterozygosity for loss-of-function mutations in LEMD3 (607844), also called MAN1, which encodes an inner nuclear membrane protein. CLINICAL FEATURES The term 'osteopoikilosis' means literally 'spotted bones.' Circumscribed sclerotic areas occur near the ends of many bones. It is of no pathologic consequence. Spotty skin lesions, connective tissue nevi, also are found in many cases. Berlin et al. (1967) showed that either the skin or the bone lesions can be absent in families in which some members have both. Striking pedigrees supporting autosomal dominant inheritance were published by Melnick (1959), Jonasch (1955), and Busch (1937), among others. Landberg and Akesson (1963) observed the bone lesions in father and son. Raque and Wood (1970) found dermatoosteopoikilosis in a brother and sister and in a son of the brother.