Bazex-dupre-christol syndrome

Preferred Label : Bazex-dupre-christol syndrome;

Symbol : BDCS;

CISMeF acronym : BDCS; BZX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bazex syndrome; Follicular atrophoderma and basal cell carcinomas; BZX;

Description : Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.;

Inheritance : X-linked dominant;

Neoplasia : Basocellular neoplasms; Basocellular neoplasms develop after second decade; Basal cell nevi; Basal cell carcinomas;

Prefixed ID : #301845;

Details

Origin ID

301845;

UMLS CUI

C0346104;

Automatic exact mappings (from CISMeF team)
- Acrokeratosis paraneoplastica [ICD-11 More detail]
- Bazex-Dupré-Christol syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Bazex syndrome [ORDO Disease]
- Bazex-Dupre-Christol syndrome [MeSH concept]
- Bazex-Dupre-Christol syndrome [MeSH Supplementary Concept]
- Bazex-Dupré-Christol syndrome [PASCAL descriptor]
- Bazex-Dupré-Christol syndrome [ORDO Disease]
- Follicular atrophoderma and basal cell epitheliomata (disorder) [SNOMED CT concept]
HPO term(s)
- Abnormality of the mouth [HPO term]
- Acne inversa [HPO term]
- Atopic dermatitis [HPO term]
- Basal cell carcinoma [HPO term]
- Coarse hair [HPO term]
- Eczema [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypohidrosis [HPO term]
- Hypotrichosis [HPO term]
- Infantile onset [HPO term]
- Joint hypermobility [HPO term]
- Keratosis pilaris [HPO term]
- Low hanging columella [HPO term]
- Milia [HPO term]
- Narrow nasal ridge [HPO term]
- Nevus [HPO term]
- Pili torti [HPO term]
- Sparse hair [HPO term]
- Trichoepithelioma [HPO term]
- Trichorrhexis nodosa [HPO term]
- Underdeveloped nasal alae [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Bazex-Dupré-Christol syndrome [ORDO Disease]
See also inter- (CISMeF)
- Follicular atrophoderma-basal cell carcinoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Bazex-Dupre-Christol syndrome [MeSH Supplementary Concept]
- Bazex-Dupre-Christol syndrome [MeSH concept]
- Bazex-Dupré-Christol syndrome [ORDO Disease]
- Bazex-Dupré-Christol syndrome [PASCAL descriptor]
- Follicular atrophoderma and basal cell epitheliomata (disorder) [SNOMED CT concept]
- Follicular atrophoderma-basal cell carcinoma [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients