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Epidermolytic palmoplantar keratoderma
1 OMIM reference -
4 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
EEC syndrome
2 OMIM references -
1 associated gene
50 signs/symptoms
Epidermolytic palmoplantar keratoderma
EEC syndrome

KRT1
(UniProt - OMIM)
 TP63
(UniProt - OMIM)
KRT16
(UniProt - OMIM)
KRT6C
(UniProt - OMIM)
KRT9
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KRT6C
(0.72)
TP63


Citations in the biomedical literature:


Epidermolytic palmoplantar keratoderma
KRT1 KRT16 KRT6C KRT9
EEC syndrome
TP63



Epidermolytic palmoplantar keratoderma
EEC syndrome

Synonym(s):
- Diffuse erythrodermic palmoplantar keratoderma, Voerner type
- Diffuse erythrodermic palmoplantar keratoderma, Vörner type
- EPPK
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner
Synonym(s):
- Ectrodactyly - ectodermal dysplasia - cleft lip/palate
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures

Epidermolytic palmoplantar keratoderma
EEC syndrome

Very frequent
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Palmoplantar hyperkeratosis / keratoderma
- Warts / papillomas

Frequent
- Abnormal fingernails
- Eczema
- Hyperhidrosis / increased sweating



Very frequent
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Coarse / thick hair
- Complete / partial microdontia
- Defect / anomaly of lacrimal system
- Dry / squaly skin / exfoliation
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Multiple caries
- Oligodactyly / ectrodactyly of fingers
- Oligodactyly / ectrodactyly of toes
- Taurodontia
- Thick / bushy eyebrows

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cleft lip and palate
- Corneal ulceration / perforation
- Diffuse / generalised skin hypopigmentation / cutaneous albinism
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Photophobia
- Skin hypoplasia / aplasia / atrophy
- slow growth of the hair
- Urethral anomalies / stenosis / posterior urethral valves / megalocystis

Occasional
- Breast tissue / mammary gland absence / aplasia
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Fine hair
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypoplastic / absent nipples
- Hypospadias / epispadias / bent penis
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphoma
- Mouth dryness / xerostomia
- Proximally set thumb
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thumb hypoplasia / aplasia / absence
- Thymic aplasia / hypoplasia
- Vesicorenal / vesicoureteral reflux