Buschke-Ollendorff Syndrome

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

LEMD3, ASXL1, ELN, CRLF1, ASXL3, CXCL8, TGFB1, CD96, KLHL7, PRDM16, MIR191

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Interferon gamma 1b ( ACTIMMUNE, IMUKIN ), haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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Buschke-Ollendorff syndrome (BOS) affects the skin and bones causing skin lesions and spots on the bones. The skin lesions are due to abnormalities in different types of connective tissue. The bone spots are painless areas of increased bone density seen on X-ray. People with BOS may have only skin, only bone or both skin and bone involvement. Rarely, BOS causes melorheostosis, which results in abnormal bone growth and can lead to bone pain and abnormally flexed joints. Symptoms of BOS usually start in childhood. The skin lesions can increase with age, but they do not cause other symptoms. BOS is caused by variations in the LEMD3 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on clinical examination, imaging studies, and may be confirmed by the results of genetic testing. Treatment of BOS is focused on managing the symptoms. Many people with BOS have no symptoms or pain and do not require any treatment.