Epidermodysplasia verruciformis

General Information (adopted from Orphanet):

Synonyms, Signs: Lewandowsky-Lutz syndrome
Lutz-Lewandowsky epidermodysplasia verruciformis
Number of Symptoms 14
OrphanetNr: 302
OMIM Id: 226400
305350
ICD-10: B07
UMLs: C0014522
MeSH: D004819
MedDRA: 10052339
Snomed: 19138001

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic immune deficiency with skin involvement
 -Rare genetic disease
Immune deficiency with skin involvement
 -Rare skin disease
Other immunodeficiency syndromes due to defects in innate immunity
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0200039) Pustule Very frequent [Orphanet] 20 / 7739
2
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
3
 (HPO:0001051) Seborrheic dermatitis Very frequent [Orphanet] 25 / 7739
4
 (HPO:0200043) Verrucae 11 / 7739
5
 (HPO:0001053) Hypopigmented skin patches Frequent [Orphanet] 80 / 7739
6
 (HPO:0002671) Basal cell carcinoma 18 / 7739
7
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
8
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
9
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
10
 (HPO:0100585) Telangiectasia of the skin Occasional [Orphanet] 66 / 7739
11
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
12
 (HPO:0002715) Abnormality of the immune system Very frequent [Orphanet] 46 / 7739
13
 (HPO:0012740) Papilloma Very frequent [Orphanet] 17 / 7739
14
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: