Linear verrucous nevus syndrome
Synonyms: Linear hamartoma syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare skin disease characterized by a hamartomatous epidermal lesion presenting as a linear array of verrucous, hyperkeratotic papules that often coalesce into plaques and are formed along the lines of Blaschko. The condition is associated with involvement of other organ systems, mainly brain, eye, and skeletal system. It is the result of mosaic post-zygotic mutations and most commonly presents at birth, but may occur anytime during childhood, rarely also in adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Linear verrucous nevus syndrome | Linear hamartoma syndrome |
| fr | Naevus verruqueux de forme linéaire | Hamartome de forme linéaire |
| de | Syndrom des linearen verrukösen Naevus | Lineares Hamartom-Syndrom |
| es | Síndrome de nevo epidérmico verrugoso lineal | Síndrome de hamartoma lineal |
| it | Sindrome del nevo verrucoso lineare | Amartoma lineare |
| nl | Lineaire verruceuze naevus-syndroom | Lineair hamartoom-syndroom |
| pt | Síndrome de nevo verrucoso linear | Síndrome de hamartoma linear |
| pl | Zespół linijnego znamienia brodawkowatego | Zespół linijnego harmatoma |
| cs | Syndrom lineárního verukosního névu | Syndrom lineárního hamartomu |
| uk | Синдром лінійного веррукозного невусу | Синдром лінійної гамартоми |
| zh | 线状疣状痣综合征 | 线状疣状痣综合征 |
| tr | Doğrusal verrüköz nevüs sendromu | Doğrusal hamartoma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.5 | NTBT | attributed | validated |
| ICD-11 | LC00.Y | NTBT | attributed | validated |
| MONDO | 0016831 | E | validated | |
| UMLS | C5679838 | E | validated | |
| GARD | 3259 | 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:294057Rare nevus
rare skin diseases; rare neoplastic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009592 | Astrocytoma | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000256 | Macrocephaly | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0002209 | Sparse scalp hair | |
| HP:0012500 | Verrucous papule | |
| Frequent (79-30%) | ||
| HP:0001268 | Mental deterioration | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0008060 | Aplasia/Hypoplasia of the fovea | |
| HP:0000518 | Cataract | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002816 | Genu recurvatum | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000612 | Iris coloboma | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000488 | Retinopathy | |
| HP:0002650 | Scoliosis | |
| HP:0010049 | Short metacarpal | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000486 | Strabismus | |
| HP:0001883 | Talipes | |
| HP:0001770 | Toe syndactyly | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2611
- This record as JSON: /data/d/2611.json