Transgrediens et progrediens palmoplantar keratoderma

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
Keratosis extremitatum hereditaria progrediens
Progressive diffuse PPK
Keratosis palmoplantaris transgrediens et progrediens
Greither disease
Transgrediens et progrediens PPK
Progressive diffuse palmoplantar keratoderma
Number of Symptoms 12
OrphanetNr: 495
OMIM Id: 133200
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant isolated diffuse palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
2
(HPO:0001131) Corneal dystrophy Occasional [Orphanet] 56 / 7739
3
(HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
4
(HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
5
(HPO:0010783) Erythema Frequent [Orphanet] 138 / 7739
6
(HPO:0005588) Patchy palmoplantar keratoderma 3 / 7739
7
(HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
8
(HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
9
(HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
10
(HPO:0005595) Generalized hyperkeratosis 14 / 7739
11
(OMIM) Localized symmetric fixed, yellow- or red-brown hyperkeratotic plaques (extensor surface of extremities, buttocks, and lateral trunk) 3 / 7739
12
(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 ...