http://www.orthopaedicweblinks.com An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. OCOSH Code C05.116.099.708.702.685_bd_dbd_ocdys_os_opk en-us Thu Feb 21 2008 22:43:29 GMT Copyright 2005 OWL Inc. orthopaedicweblinks@gmail.com (Christian Veillette) orthopaedicweblinks@gmail.com (OWL Inc.) http://www.orthopaedicweblinks.com/Detailed/10640.html #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. 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10640 http://www.orthopaedicweblinks.com/Detailed/10639.html Background: Buschke-Ollendorff syndrome is a rare hereditary disorder of connective tissue. It is inherited as a pleiotropic autosomal dominant trait with incomplete penetrance. Albers-Schönberg described this syndrome in 1915, and Buschke and Mme Ollendorff described it in 1928. Buschke-Ollendorff is considered to be a hamartoma, an association of osteopoikilosis and connective tissue nevi. Pathophysiology: In the presence of 10% calf serum, cultured fibroblasts of patients with Buschke-Ollendorff syndrome produce 3-8 times more tropoelastin than fibroblasts of healthy individuals. Elastin production is higher in involved and uninvolved skin. Elevated elastin messenger ribonucleic acid (mRNA) levels suggest that Buschke-Ollendorff syndrome may result from abnormal regulation of extracellular matrix, leading to increased levels of elastin mRNA and increased accumulation of elastin in the dermis. Frequency: Internationally: The incidence (1 case per 20,000 population) is rare. The prevalence of Buschke-Ollendorff syndrome is rare throughout the world. Mortality/Morbidity: The cause of mortality may be malignancy of bone densities into osteosarcoma, chondrosarcoma, and giant cell tumor. The otosclerosis with hearing impairment, stenosis of the aortae, and diabetes frequently found in this syndrome make the patient's condition serious. Department of Dermatology, Venereology and Allergology, University of Medicine at Wroclaw, Poland 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10639 Grazyna Szybejko-Machaj, MD, PhD, & Mieczyslawa Miklaszewska, MD, PhD, http://www.orthopaedicweblinks.com/Detailed/10643.html Search String osteopoikilosis orthopaedic 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10643 Myles Clough http://www.orthopaedicweblinks.com/Detailed/10595.html Osteopoikilosis is a condition of unknown origin which is transmitted in an autosomal dominant manner with high penetrance (meaning patients with the gene usually have the condition). Some cases are spontaneous and there is no family history. Males and females are equally affected. Patients are asymptomatic, and laboratory exams are normal. Osteosarcoma has been reported to occur in affected bone. associated conditions include: dermatofibrosis lenticularis disseminata, scleroderma, syndactyly, dwarfism, endocrine abnormalities, melorrheostosis, and cleft palate. Most patients have no other findings. 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10595 http://www.orthopaedicweblinks.com/Detailed/10638.html "An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)" aka/or Buschke-Ollendorf syndrome aka/or Dermatofibrosis lenticularis aka/or Disseminated dermatofibrosis aka/or Osteodermatopoikilosis aka/or Osteopathia condensans disseminata may cause or feature X-ray abnormalities Osteosclerosis may be a risk factor for Benign neoplastic conditions Connective tissue nevus of skin may be allelic with Melorheostosis belong(s) to the category of Autosomal dominant conditions 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10638 http://www.orthopaedicweblinks.com/Detailed/10641.html Enostoses (bone islands) form when endochondral ossification proceeds normally, but the mature bony trabeculae fail to properly remodel. Osteopoikilosis (osteopathia condensans disseminata, or “spotted bone disease”), like enostosis or osteopathia striata, is typically an autosomal dominant, asymptomatic disorder characterized by an abnormality in the endochondral bone maturation process. Osteopoikilosis results in numerous rounded or oval, 2-10mm enostoses that appear in childhood and persist throughout life. 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10641 http://www.orthopaedicweblinks.com/Detailed/10642.html MedPix collection of Images 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10642 http://www.orthopaedicweblinks.com/Detailed/10619.html literally translated means spotted bones; - condition is a radiologic curiosity that is transmitted as autosomal dominant trait with a high degree of penetrance; - bony lesions are typically asymptomatic 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10619 Wheeless http://www.orthopaedicweblinks.com/Detailed/10644.html Search String "Osteopoikilosis"[MAJR] 2006-12-17 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=10644 Myles Clough http://www.orthopaedicweblinks.com/Detailed/3579.html osteopoikilosis 2002-01-31 22:43:29 GMT http://www.orthopaedicweblinks.com/cgi-bin/owl/jump.cgi?ID=3579