Keratosis follicularis spinulosa decalvans
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Childhood
- Status
- active
Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratosis follicularis spinulosa decalvans | |
| fr | Kératose folliculaire spinulosa decalvans de Siemens | |
| de | Keratosis follicularis spinulosa decalvans | |
| es | Queratosis folicular espinulosa decalvante | |
| it | Cheratosi follicolare spinulosa decalvante di Siemens | |
| nl | Keratosis follicularis spinulosa decalvans | |
| pt | Queratose folicular espinulosa decalvante | |
| pl | Kolczyste rogowacenie mieszkowe wyłysiające | |
| cs | Keratosis follicularis spinulosa decalvans | |
| uk | Фолікулярний кератоз шипоподібний підривний | |
| zh | 棘状秃发性毛发角化病 | |
| tr | Keratosis folikülaris spinulosa dekalvans |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308800 | BTNT | validated | |
| OMIM | 604093 | NTBT | validated | |
| OMIM | 612843 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | ED56 | NTBT | index | validated |
| MONDO | 0000136 | E | validated | |
| MeSH | C536159 | E | validated | |
| UMLS | C0343057 | E | validated | |
| GARD | 6829 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:498Keratosis pilaris atrophicans
rare genetic diseases; rare skin diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SAT1 | Candidate gene tested in | Not yet assessed | HGNC:10540 | ENSG00000130066 | 313020 | Xp22.11 | spermidine/spermine N1-acetyltransferase 1 | 12215835[PMID] |
| LRP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6692 | ENSG00000123384 | 107770 | 12q13.3 | LDL receptor related protein 1 | 26142438[PMID] |
| MBTPS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15455 | ENSG00000012174 | 300294 | Xp22.12 | membrane bound transcription factor peptidase, site 2 | 20672378[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2025-01-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001041 | Facial erythema | |
| HP:0007502 | Follicular hyperkeratosis | |
| HP:0025084 | Folliculitis | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0032152 | Keratosis pilaris | |
| HP:0002287 | Progressive alopecia | |
| HP:0000989 | Pruritus | |
| HP:0004552 | Scarring alopecia of scalp | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| Occasional (29-5%) | ||
| HP:0001047 | Atopic dermatitis | |
| HP:0000498 | Blepharitis | |
| HP:0000509 | Conjunctivitis | |
| HP:0001131 | Corneal dystrophy | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000613 | Photophobia | |
Annotation source: 26622157[PMID]_27663151[PMID]_33614716[PMID]_38087855[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2340
- This record as JSON: /data/d/2340.json