Idiopathic trachyonychia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic trachyonychia | |
| fr | Trachyonychie idiopathique | |
| de | Trachyonychia idiopathica | |
| es | Displasia ungueal | |
| it | Trachionichia idiopatica | Distrofia delle venti unghie · Onicodistrofia totale |
| nl | Idiopathische trachyonychie | |
| pt | Displasia das unhas | Distrofia das vinte unhas · Onicodistrofia total |
| pl | Autosomalna dominująca dysplazja paznokci | Całkowita dystrofia paznokci · Dystrofia dwudziestu paznokci |
| cs | Autozomálně dominantní dysplázie nehtů | Totální onychodystrofie · Trachyonychie |
| uk | Ідіопатична трахіоніхія | |
| zh | 特发性指甲粗糙脆裂 | |
| tr | İdiyopatik trakiyonikya |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L60.3 | NTBT | attributed | validated |
| ICD-11 | EC22.0 | NTBT | index | validated |
| MONDO | 0008060 | E | validated | |
| UMLS | C5681288 | E | validated | |
| GARD | 10363 | 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:79369Isolated nail anomaly
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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
17 annotations · validated 2021-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008404 | Nail dystrophy | |
| Frequent (79-30%) | ||
| HP:0100803 | Abnormality of the periungual region | |
| HP:0001598 | Concave nail | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0001808 | Fragile nails | |
| HP:0001803 | Nail pits | |
| HP:0001807 | Ridged nail | |
| HP:0001816 | Thin nail | |
| Occasional (29-5%) | ||
| HP:0008399 | Circumungual hyperkeratosis | |
| HP:0002232 | Patchy alopecia | |
| HP:0100797 | Toenail dysplasia | |
| Very rare (<4-1%) | ||
| HP:0011034 | Amyloidosis | |
| HP:0001047 | Atopic dermatitis | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0008064 | Ichthyosis | |
| HP:0001045 | Vitiligo | |
| Excluded (0%) | ||
| HP:0012531 | Pain | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31923322[PMID]_27843915[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79153
- This record as JSON: /data/d/79153.json