Hypotrichosis simplex of the scalp
Synonyms: Hereditary hypotrichosis simplex of the scalp
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare alopecia characterized by scalp-limited progressive hair loss. Most of the patients present with normal hair at birth, progressive hair loss starts during the first decade of life and leads to almost complete loss (sparse, fine and short hairs may remain in some patients) of scalp hair by the third decade. Body, axillary and facial hair (including eyebrows, eye lashes and beard) are not affected. Teeth and nails develop normally.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypotrichosis simplex of the scalp | Hereditary hypotrichosis simplex of the scalp |
| fr | Hypotrichose simple du cuir chevelu | Hypotrichose héréditaire simple du cuir chevelu |
| de | Hypotrichosis simplex des Skalps | |
| es | Hipotricosis simple del cuero cabelludo | Hipotricosis simple del cuero cabelludo hereditaria |
| it | Ipotricosi semplice del cuoio capelluto | Ipotricosi semplice del cuoio capelluto, forma ereditaria |
| nl | Hypotrichosis simplex van scalp | Erfelijke hypotrichosis simplex van scalp |
| pt | Hipotricose simples do couro cabeludo | |
| pl | Hipotrichoza prosta skóry głowy | Dziedziczna hipotrichoza skóry głowy |
| cs | Hypotrichosis simplex vlasaté části hlavy | Dědičná hypotrichosis simplex skalpu |
| uk | Простий гіпотрихоз волосистої частини голови | Спадковий простий гіпотрихоз волосистої частини голови |
| zh | 先天性头皮单纯少毛症 | 遗传性头皮单纯少毛症 |
| tr | Kafa derisinin hipotrikoz simpleksi | Kafa derisinin kalıtsal hipotrikoz simpleksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146520 | BTNT | validated | |
| OMIM | 613981 | BTNT | validated | |
| ICD-10 | L65.8 | NTBT | attributed | validated |
| ICD-11 | EC21.2 | NTBT | index | validated |
| MONDO | 0019575 | E | validated | |
| MeSH | C564143 | E | validated | |
| UMLS | C1840299 | 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 (2):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDSN | Disease-causing germline mutation(s) in | Assessed | HGNC:1802 | ENSG00000204539 | 602593 | 6p21.33 | corneodesmosin | 12754508[PMID] |
| KRT74 | Disease-causing germline mutation(s) in | Assessed | HGNC:28929 | ENSG00000170484 | 608248 | 12q13.13 | keratin 74 | 21188418[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
21 annotations · validated 2021-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002213 | Fine hair | |
| HP:0100038 | Slow-growing scalp hair | |
| Frequent (79-30%) | ||
| HP:0002293 | Alopecia of scalp | |
| HP:0025092 | Epidermal acanthosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001036 | Parakeratosis | |
| HP:0002209 | Sparse scalp hair | |
| Occasional (29-5%) | ||
| HP:0003193 | Allergic rhinitis | |
| HP:0001047 | Atopic dermatitis | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0000989 | Pruritus | |
| HP:0040189 | Scaling skin | |
| Excluded (0%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0100134 | Abnormality of the axillary hair | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0100133 | Abnormality of the pubic hair | |
| HP:0002550 | Absent facial hair | |
| HP:0004528 | Generalized hypotrichosis | |
| HP:0007550 | Hypohidrosis or hyperhidrosis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23746069[PMID]_28873114[PMID]_ 31663161[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90368
- This record as JSON: /data/d/90368.json