KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS CUM OPHIASI
KFSDX
Number of Symptoms 20
OrphanetNr:
OMIM Id: 308800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000498) Blepharitis 27 / 7739
2
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
3
(HPO:0000653) Sparse eyelashes 58 / 7739
4
(HPO:0000509) Conjunctivitis 47 / 7739
5
(HPO:0000613) Photophobia 158 / 7739
6
(HPO:0001131) Corneal dystrophy 56 / 7739
7
(HPO:0000491) Keratitis 21 / 7739
8
(HPO:0008404) Nail dystrophy 89 / 7739
9
(HPO:0001041) Facial erythema 8 / 7739
10
(HPO:0000982) Palmoplantar keratoderma 40 / 7739
11
(OMIM) Perifollicular inflammatory infiltrate 2 / 7739
12
(OMIM) Follicular hyperkeratotic papules 2 / 7739
13
(OMIM) Perifollicular fibrosis 2 / 7739
14
(OMIM) Epidermal hyperplasia 2 / 7739
15
(OMIM) Dry, bumpy skin 1 / 7739
16
(MedDRA:10001764) Alopecia scarring 2 / 7739
17
(OMIM) Folliculitis of the scalp, trunk, and extensor surfaces of the extremities 2 / 7739
18
(MedDRA:10066295) Keratosis pilaris 11 / 7739
19
(MedDRA:10016936) Folliculitis 5 / 7739
20
(OMIM) Alopecia, beginning in the occiput 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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. ...
Clinical Description OMIM Siemens (1925) described 2 families with X-linked inheritance of keratosis follicularis spinulosa decalvans. According to information from Oosterwijk (1992), 1 family was from Bavaria and the other from the Netherlands. Siemens personally investigated 2 members of the Dutch ...
Molecular genetics OMIM In affected members of the large Dutch family with KFSDX originally reported by Siemens (1926) and followed-up by van Osch et al. (1992), Aten et al. (2010) identified a mutation in the MBTPS2 gene (R508S; 300294.0006). The same ...