Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome | |
| fr | Syndrome de leuconychie totale-lésions de type acanthosis nigricans-cheveux anormaux | |
| de | Leukonychia totalis - Acanthosis-nigricans-artige Läsionen - Haarveränderungen | |
| es | Síndrome de leuconiquia total-lesiones tipo acantosis nigricans-cabello anómalo | |
| it | Sindrome leuconichia totale, lesioni simil- acanthosis nigricans ed anomalie dei capelli | |
| nl | Leukonychia totalis - acanthosis-nigricans-achtige laesies - abnormaal haar-syndroom | |
| pt | Leuconiquia total - lesões tipo acantose nigricans - anomalias dos pelos | |
| pl | Leukonychia całkowita - zmiany podobne do rogowacenia ciemnego - nieprawidłowe włosy | |
| cs | Syndrom zahrnující leukonychia totalis, léze podobné acanthosis nigricans a abnormální vlasy | |
| uk | Тотальна лейконіхія - acanthosis-nigricans-подібні ураження - синдром аномального волосся | |
| zh | 全白甲-棘皮病-黑质样病变-头发异常综合症 | |
| tr | lökoniki totalis-akantoz-nigrikans benzeri lezyonlar-anormal saç sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC22.0 | NTBT | attributed | validated |
| MONDO | 0016213 | E | validated | |
| UMLS | C4751169 | 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:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 19401242[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19401242[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210133
- This record as JSON: /data/d/210133.json