Progressive symmetric erythrokeratodermia

General Information (adopted from Orphanet):

Synonyms, Signs: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC
KERATOSIS PALMOPLANTARIS TRANSGREDIENS ET PROGREDIENS, INCLUDED
ERYTHROKERATODERMIA VARIABILIS
ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE, INCLUDED
ERYTHROKERATODERMIA FIGURATA, CONGENITAL FAMILIAL, IN PLAQUES
EKVP
PSEK
EKV
Progressive symmetric erythrokeratodermia, Gottron type
Progressiva symmetrica erythrokeratodermia
Darier-Gottron disease
Number of Symptoms 9
OrphanetNr: 316
OMIM Id: 133200
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
 -Rare genetic disease
 -Rare skin disease
Erythrokeratoderma variabilis progressiva
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0005595) Generalized hyperkeratosis 14 / 7739
2
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
3
(HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
4
(HPO:0005588) Patchy palmoplantar keratoderma 3 / 7739
5
(OMIM) Localized symmetric fixed, yellow- or red-brown hyperkeratotic plaques (extensor surface of extremities, buttocks, and lateral trunk) 3 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(HPO:0003593) Infantile onset 249 / 7739
9
(OMIM) Transient, migratory sharply outlined erythema (in some patients) 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth ...
Clinical Description OMIM Mendes da Costa (1925) described this condition in a mother and daughter and assigned the designation erythrokeratodermia variabilis (EKV). The patients showed relatively fixed patches of hyperkeratosis and erythematous areas 'characterized by capriciously formed outlines, like the boundary ...
Molecular genetics OMIM - Heterozygous Mutation in the GJB3 Gene

Richard et al. (1998) identified mutations in the connexin gene GJB3 (603324.0001-603324.0003) as the cause of the migratory form of erythrokeratodermia variabilis (EKV) in 4 families. No mutation in ...