Buschke-Ollendorff syndrome

An autosomal dominant connective tissue disorder characterized by multiple subcutaneous NEVI or nodules. They may be either ELASTIN - rich (elastoma) or COLLAGEN -rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis in the EPIPHYSES and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Mutations in the LEMD3 gene have been identified. OMIM: 166700

Also Known As:

Networked: 13 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Osteopoikilosis
2.	Melorheostosis
3.	Nevus (Nevi)
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome)

Experts

1.	Xu, Zhijun: 1 article (01/2021)
2.	Xue, Ruzeng: 1 article (01/2021)
3.	Yang, Chao: 1 article (01/2021)
4.	Bodak, Nathalie: 1 article (08/2012)
5.	Bodemer, Christine: 1 article (08/2012)
6.	Delanoé, Phillippe: 1 article (08/2012)
7.	Fraitag, Sylvie: 1 article (08/2012)
8.	Hamel, Dominique: 1 article (08/2012)
9.	Lemerrer, Martine: 1 article (08/2012)
10.	Marrou, Karine: 1 article (08/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Buschke-Ollendorff syndrome:

1.	Proteins (Proteins, Gene)FDA Link 08/01/2007 - "Recent studies have reported loss of function mutations in the LEMD3 gene, encoding an inner nuclear membrane protein that influences Smad signaling, as a cause of osteopoikilosis, Buschke-Ollendorff syndrome, and melorheostosis. " 01/01/1999 - "Since an elevated elastin expression in the fibroblasts of typical Buschke-Ollendorff syndrome (BOS) has been reported, elastin and elastin-related protein mRNA levels in the cultured patient fibroblasts were determined. "
2.	ElastinIBA 08/01/1992 - "Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture." 04/01/1981 - "Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorff syndrome." 04/01/1981 - "The results indicate that the skin lesions of the Buschke-Ollendorff syndrome are connective tissue nevi of the elastin type. " 03/01/2008 - "Buschke-Ollendorff syndrome (BOS) is an autosomal dominant disorder characterized by elastin-rich hamartomas and osteopoikilosis. " 07/01/1982 - "In this review we are discussing the current status of the research on the elastin diseases with particular emphasis on clinical conditions affecting skin, as for example, cutis laxa, pseudoxanthoma elasticum, and the Buschke-Ollendorff syndrome. "
3.	Nonsense Codon (Nonsense Mutation)IBA 07/01/2011 - "Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3." 05/01/2008 - "Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene."
4.	Messenger RNA (mRNA)IBA 08/01/1992 - "Elastin mRNA levels were elevated in all patient strains, suggesting that Buschke-Ollendorff syndrome may result, at least in part, from abnormal regulation of extracellular matrix metabolism that leads to increased steady-state levels of elastin mRNA and elastin accumulation in the dermis." 01/01/1999 - "Since an elevated elastin expression in the fibroblasts of typical Buschke-Ollendorff syndrome (BOS) has been reported, elastin and elastin-related protein mRNA levels in the cultured patient fibroblasts were determined. "
5.	TropoelastinIBA 11/01/2010 - "Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression."
6.	Proteoglycans (Proteoglycan)IBA 05/01/2004 - "They are subdivided into collagen, elastin, proteoglycans and mixed type, depending on their particular histopathologic features, and they often appear as a component of Buschke-Ollendorff Syndrome."
7.	MucinsIBA 01/01/2021 - "Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition."
8.	CollagenIBA 05/01/2004 - "They are subdivided into collagen, elastin, proteoglycans and mixed type, depending on their particular histopathologic features, and they often appear as a component of Buschke-Ollendorff Syndrome."
9.	trans-crotonin (CTN)IBA 08/01/2012 - "Connective tissue nevi (CTN) may be isolated, either sporadic or hereditary, or syndromic as in the Buschke-Ollendorff syndrome. "