Buschke-ollendorff syndrome

Preferred Label : Buschke-ollendorff syndrome;

Symbol : BOS;

CISMeF acronym : BOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dermatofibrosis, disseminated, with osteopoikilosis; Dermatofibrosis lenticularis disseminata with osteopoikilosis; Osteopathia condensans disseminata; DERMATOOSTEOPOIKILOSIS;

Included titles and symbols : Osteopoikilosis, isolated; Dermatofibrosis lenticularis disseminata, isolated; Osteopoikilosis with melorheostosis;

Description : Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest 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 (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur 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. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the LEM domain-containing-3 gene (LEMD3, 607844.0001);

Prefixed ID : #166700;

Details

Origin ID

166700;

UMLS CUI

C0265514;

Automatic exact mappings (from CISMeF team)
- Bleomycin/Vincristine [NCIt concept]
- Bosnian Language [NCIt concept]
- Bottle Dosing Unit [NCIt concept]
- Bronchiolitis Obliterans [NCIt concept]
- Bronchiolitis Obliterans Syndrome [NCIt concept]
- Isolated osteopoikilosis [ORDO Disease]
- Melorheostosis with osteopoikilosis [ICD-11 More detail]
- Melorheostosis with osteopoikilosis [ORDO Disease]
- Osteopoikilosis (disorder) [SNOMED CT concept]
- branchiootic syndrome [MeSH Supplementary Concept]
- melorheostosis with osteopoikilosis [MeSH concept]
- melorheostosis with osteopoikilosis [MeSH Supplementary Concept]
- osteopoikilosis [MeSH Descriptor]
- osteopoikilosis, isolated [MeSH concept]
- osteopoikilosis, isolated [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Buschke Ollendorff syndrome [Disease (Nov.)]
- Buschke-Ollendorff syndrome [ICD-11 More detail]
- Buschke-Ollendorff syndrome [DO Concept]
- Buschke-Ollendorff syndrome [MeSH concept]
- Buschke-Ollendorff syndrome [MeSH Supplementary Concept]
- Buschke-Ollendorff syndrome [ORDO Disease]
- Buschke-Ollendorff syndrome [MedDRA LLT]
- Dermatofibrosis lenticularis disseminata [MedDRA Preferred Term]
- Dermatofibrosis lenticularis disseminata (disorder) [SNOMED CT concept]
- dermatofibrosis lenticularis disseminata [SNOMED Notion]
DO Cross reference
- Buschke-Ollendorff syndrome [DO Concept]
False automatic mappings
- Belarus [NCIt concept]
- Bolivia, Plurinational State of [NCIt concept]
Genes related to phenotype
- Lem domain-containing protein 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Connective tissue nevi [HPO term]
- Flexion contracture [HPO term]
- Hoarse voice [HPO term]
- Joint stiffness [HPO term]
- Nevus [HPO term]
- Osteopoikilosis [HPO term]
ORDO concept(s)
- Buschke-Ollendorff syndrome [ORDO Disease]
- Isolated osteopoikilosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Buschke Ollendorff syndrome [Disease (Nov.)]
- Buschke-Ollendorff syndrome [MeSH Supplementary Concept]
- Buschke-Ollendorff syndrome [MeSH concept]
- Buschke-Ollendorff syndrome [MedDRA LLT]
- Buschke-Ollendorff syndrome [ORDO Disease]
- Buschke-Ollendorff syndrome [ICD-11 More detail]
- Buschke-Ollendorff syndrome [DO Concept]
- Dermatofibrosis lenticularis disseminata [MedDRA Preferred Term]
- Dermatofibrosis lenticularis disseminata (disorder) [SNOMED CT concept]
- dermatofibrosis lenticularis disseminata [SNOMED Notion]

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