Keratosis follicularis spinulosa decalvans, X-linked

Preferred Label : Keratosis follicularis spinulosa decalvans, X-linked;

Symbol : KFSDX;

CISMeF acronym : KFSDX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratosis follicularis spinulosa decalvans cum ophiasi;

Description : Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the membrane-bound transcription factor protease, site 2 gene (MBTPS2, 300294.0006);

Prefixed ID : #308800;

Details

Origin ID

308800;

UMLS CUI

C3887525;

Automatic exact mappings (from CISMeF team)
- SAT1 wt Allele [NCIt concept]
- X-linked keratosis follicularis spinulosa decalvans [DO Concept]
Broader ORDO disease(s)
- Keratosis follicularis spinulosa decalvans [ORDO Disease]
Currated CISMeF NLP mapping
- keratosis follicularis spinulosa decalvans, X-Linked [MeSH concept]
- keratosis follicularis spinulosa decalvans, X-Linked [MeSH Supplementary Concept]
DO Cross reference
- X-linked keratosis follicularis spinulosa decalvans [DO Concept]
Genes related to phenotype
- Membrane-bound transcription factor protease, site 2 [OMIM gene]
HPO term(s)
- Abnormality of the nail [HPO term]
- Blepharitis [HPO term]
- Conjunctivitis [HPO term]
- Corneal dystrophy [HPO term]
- Dry skin [HPO term]
- Dystrophic fingernails [HPO term]
- Ectropion [HPO term]
- Facial erythema [HPO term]
- Follicular hyperkeratosis [HPO term]
- Folliculitis [HPO term]
- Heterogeneous [HPO term]
- Keratitis [HPO term]
- Keratosis pilaris [HPO term]
- Nail dysplasia [HPO term]
- Palmoplantar keratoderma [HPO term]
- Perifollicular fibrosis [HPO term]
- Photophobia [HPO term]
- Scarring alopecia of scalp [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
- loss of eyebrows and eyelashes [HPO term]
- loss of eyebrows, eyelashes and beard [HPO term]
ORDO concept(s)
- Keratosis follicularis spinulosa decalvans [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- keratosis follicularis spinulosa decalvans, X-Linked [MeSH Supplementary Concept]

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