Erythrokeratodermia variabilis

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
Erythrokeratodermia variabilis, Mendes da Costa type
Number of Symptoms 33
OrphanetNr: 317
OMIM Id: 133200
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 200 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Erythrokeratoderma variabilis progressiva
 -Rare genetic disease
 -Rare skin disease
Inherited ichthyosis nonsyndromic form
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0008734) Decreased testicular size Occasional [Orphanet] 105 / 7739
2
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
(HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
4
(HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
5
(HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
6
(HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
7
(HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
8
(HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
9
(HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
10
(HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
11
(HPO:0001182) Tapered finger Occasional [Orphanet] 93 / 7739
12
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
13
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
14
(HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
15
(HPO:0000988) Skin rash Very frequent [Orphanet] 98 / 7739
16
(HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
17
(HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
18
(HPO:0005595) Generalized hyperkeratosis 14 / 7739
19
(HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
20
(HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
21
(HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
22
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
23
(HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
24
(HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
25
(HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
26
(HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
27
(HPO:0005588) Patchy palmoplantar keratoderma 3 / 7739
28
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
29
(OMIM) Localized symmetric fixed, yellow- or red-brown hyperkeratotic plaques (extensor surface of extremities, buttocks, and lateral trunk) 3 / 7739
30
(MedDRA:10025421) Macule Very frequent [Orphanet] 55 / 7739
31
(HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
32
(HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
33
(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 ...