" /> Buschke-Ollendorff syndrome - CISMeF





Preferred Label : Buschke-Ollendorff syndrome;

ICD-11 definition : Buschke-Ollendorff syndrome is a benign autosomal dominant disorder characterized 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.;

ICD-11 synonym : Dermatofibrosis lenticularis disseminata; Dermatoosteopoikilosis;

ICD-11 inclusion : Dermatoosteopoikilosis;

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Buschke-Ollendorff syndrome is a benign autosomal dominant disorder characterized 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.

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09/06/2024


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