KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: KFSD
Number of Symptoms 23
OrphanetNr:
OMIM Id: 612843
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
2
(HPO:0000670) Carious teeth 145 / 7739
3
(HPO:0000653) Sparse eyelashes 58 / 7739
4
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
5
(HPO:0000498) Blepharitis 27 / 7739
6
(HPO:0000491) Keratitis 21 / 7739
7
(HPO:0000509) Conjunctivitis 47 / 7739
8
(HPO:0000613) Photophobia 158 / 7739
9
(HPO:0008404) Nail dystrophy 89 / 7739
10
(HPO:0001596) Alopecia 162 / 7739
11
(HPO:0001041) Facial erythema 8 / 7739
12
(HPO:0002164) Nail dysplasia 82 / 7739
13
(OMIM) Epidermal hyperplasia 2 / 7739
14
(MedDRA:10016936) Folliculitis 5 / 7739
15
(HPO:0030054) Perifollicular fibrosis 2 / 7739
16
(HPO:0001425) Heterogeneous 132 / 7739
17
(OMIM) Follicular hyperkeratotic papules 2 / 7739
18
(OMIM) Alopecia, beginning in the occiput 2 / 7739
19
(OMIM) Folliculitis of the scalp, trunk, and extensor surfaces of the extremities 2 / 7739
20
(OMIM) Perifollicular inflammatory infiltrate 2 / 7739
21
(MedDRA:10066295) Keratosis pilaris 11 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Perifollicular fibrosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009).
Clinical Description OMIM Bellet et al. (2008) reported a father, son, and daughter with keratosis follicularis spinulosa decalvans. The son presented at age 17 years with hair loss. He reported dryness and flaking of his scalp at the age of 10 ...