Catalog

Buschke-Ollendorff syndrome

No MMS code

Link to WHO Definition

Buschke-Ollendorff syndrome – http://id.who.int/icd/entity/1556522143

Buschke-Ollendorff syndrome is a benign autosomal dominant disorder characterised by the association of osteopoikilosis (a characteristic but functionally inconsequential radiographic finding in bone) with hamartomata of cutaneous connective tissue in the skin. These show abnormalities of dermal elastin and have been termed juvenile elastomata. The changes are due to heterozygous loss-of-function mutations in the LEMD3 gene.