ORPHA:302
Inherited epidermodysplasia verruciformis
Synonyms: Lewandowsky-Lutz syndrome · Lutz-Lewandowsky epidermodysplasia verruciformis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited epidermodysplasia verruciformis | Lewandowsky-Lutz syndrome · Lutz-Lewandowsky epidermodysplasia verruciformis |
| fr | Epidermodysplasie verruciforme héréditaire | Dysplasie Lewandowsky-Lutz · Epidermodysplasie verruciforme de Lutz-Lewandowsky · Syndrome de Lewandowsky-Lutz |
| de | Epidermodysplasia verruciformis, hereditäre | Lewandowsky-Lutz-Syndrom · Lutz-Lewandowsky Epidermodysplasia verruciformis |
| es | Epidermodisplasia verruciforme hereditaria | Epidermodisplasia verruciforme de Lutz-Lewandowsky · Síndrome de Lewandowsky-Lutz |
| it | Epidermodisplasia verruciforme ereditaria | Epidermodisplasia verruciforme di Lutz-Lewandowsky · Sindrome di Lewandowsky-Lutz |
| nl | Hereditaire epidermodysplasia verruciformis | Epidermodysplasia verruciformis, Lutz-Lewandowsky-type · Syndroom van Lewandowsky-Lutz |
| pt | Epidermodisplasia verruciforme hereditária | Epidermodisplasia verruciforme Lutz-Lewandowsky · Síndrome Lewandowsky-Lutz |
| pl | Dziedziczna nabłonkowa dysplazja brodawkowata | Nabłonkowa dysplazja brodawkowata typu Lutza i Lewandowsky'ego · Zespół Lewandowsky'ego i Lutza · Zespół Lutza i Lewandowsky'ego · Nabłonkowa dysplazja brodawkowata typu Lutza i Lewandowsky'ego |
| cs | Epidermodysplasia verruciformis | Lutzova-Lewandowského epidermodysplasia verruciformis · Lewandowského-Lutzův syndrom · Lewandowsky-Lutzův syndrom · Lutz-Lewandowského epidermodysplasia verruciformis |
| uk | Спадкова епідермодисплазія верукоподібна | Синдром Левандовського-Лутца · Веррукоподібна епідермодисплазія Лютца-Левандовського |
| zh | 表皮发育不良 | Lutz-Lewandowsky疣状表皮发育不良 |
| tr | Epidermodisplazi verrusiformis | Lewandowsky-Lutz sendromu · Lutz-Lewandowsky epidermodisplazi verrusiformis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226400 | BTNT | validated | |
| OMIM | 305350 | BTNT | validated | |
| OMIM | 618231 | BTNT | validated | |
| OMIM | 618267 | BTNT | validated | |
| OMIM | 618309 | BTNT | validated | |
| ICD-10 | B07 | NTBT | index | validated |
| ICD-11 | 1E83 | NTBT | index | validated |
| MONDO | 0009176 | E | validated | |
| MeSH | D004819 | E | validated | |
| UMLS | C0014522 | E | validated | |
| GARD | 6357 | E | validated | |
| MedDRA | 10052339 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:183710Genetic susceptibility to infections due to particular pathogens
rare genetic diseases; rare immunological diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMC6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18021 | ENSG00000141524 | 605828 | 17q25.3 | transmembrane channel like 6 | 12426567[PMID] |
| TMC8 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20474 | ENSG00000167895 | 605829 | 17q25.3 | transmembrane channel like 8 | 12426567[PMID] |
| CIB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:16920 | ENSG00000185043 | 602293 | 15q26.1 | calcium and integrin binding 1 | 30068544[PMID] |
| IL7 | Disease-causing germline mutation(s) in | Assessed | HGNC:6023 | ENSG00000104432 | 146660 | 8q21.13 | interleukin 7 | 25981006[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002715 | Abnormality of the immune system | |
| HP:0200034 | Papule | |
| HP:0200039 | Pustule | |
| HP:0001581 | Recurrent skin infections | |
| HP:0001051 | Seborrheic dermatitis | |
| HP:0200035 | Skin plaque | |
| HP:0200043 | Verrucae | |
| Frequent (79-30%) | ||
| HP:0001053 | Hypopigmented skin patches | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| Occasional (29-5%) | ||
| HP:0002860 | Squamous cell carcinoma | |
| HP:0100585 | Telangiectasia of the skin | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/302
- This record as JSON: /data/d/302.json