By Gary M. White, MD
Erythrokeratodermia variabilis (EV) is a rare genetic disorder with two classic types of lesions:
1. Sharply marginated, transient figurate erythematous thin plaques that change over days to weeks.
2. Fixed, hyperkeratotic plaques.
- Onset is usually at birth or early childhood.
- Mutations in connexins GJB3 (connexin31), GJB4 (connexin 30.3); most recently GJA1 (connexin 43)
- Mutations in connexin genes alter the structure and function of gap junctions thereby affect intercellular transport and signaling.
- AD inheritance may occur.
- For a similar clinical entity, see Progressive Symmetric Erythrokeratoderma. PSE has the fixed, hyperkeratotic plaques, but lacks the migratory lesions.
Circumscribed erythematous, brownish to bright red lesions which change shape over the course of several hours is characteristic. Exacerbation by cold, wind, heat or emotional stress has been reported. Erythema gyrated reopens lesions may rarely occur [Indian J Paediatr Dermatol 2016;17:202-5]. Additionally, hyperkeratotic yellowish-brown plaques are characteristic and may develop on normal or previously erythematous skin. The face, buttocks and limbs are favored sites. Palmoplantar keratoderma occurs in about half the patients.
EK from GJA1 Mutations
- Newly described form with mutations in gap junction protein alpha 1 [J Invest Dermatol. 2014 Nov 14]
- Severe EK with PPK
- Progressive darkening at frictional sites
- Porcelain white proximal nails
- Disrupted Cx43 membrane localization and aggregation within the Golgi
The course is chronic and may persist throughout life. Some patients have partially regressed at puberty or improved during the summer. Topical retinoids may be tried, but response is variable. Oral retinoids are very effective (e.g. acitretin 25 mg/day) but cumulative side effects may limit their long-term use.
Migratory lesions. Indian Dermatol Online J 2013;4:340-3
Migratory lesions. Dermatology Online Journal
Fixed Plaques. Indian Dermatol Online J 2013;4:340-3
Erythema gyratum repens like lesions. Peds Derm 2002;19;285 and
Indian J Paediatr Dermatol 2016;17:202-5
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