Synonym(s): - EKV - Erythrokeratodermia variabilis, Mendes da Costa type
Classification (Orphanet): - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
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 - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
GJB3	O75712	603324
GJB4	Q9NTQ9	605425

- Autosomal dominant inheritance
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macules
- Microcephaly
- Short stature / dwarfism / nanism
- Skin photosensitivity
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Weight loss / loss of appetite / break in weight curve / general health alteration

- Alopecia
- Cataract / lens opacification
- Diabetes mellitus
- Dry / squaly skin / exfoliation
- Glaucoma
- Hair and scalp anomalies
- Irregular / in bands / reticular skin hyperpigmentation
- Late puberty / hypogonadism / hypogenitalism
- Palmoplantar hyperkeratosis / keratoderma

- Congenital cardiac anomaly / malformation / cardiopathy
- Corneal clouding / opacity / vascularisation
- Hearing loss / hypoacusia / deafness
- Hirsutism / hypertrichosis / Increased body hair
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nails anomalies
- Prominent / bat ears
- Short hand / brachydactyly
- Skin tumors / lumps / epidermal cysts
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Tapered fingers