Erythrokeratodermia progressive symmetrica Q82.8

Rare, autosomal-dominantly inherited cornification anomaly with incomplete penetrance and variable expressivity. Identity with erythrokeratodermia figurata variabilis is often discussed (occurrence of both clinical pictures in one family).

No gender preference

Mutations in the ELOVL4 gene have been identified. Pathogenic variants in this gene are the cause of autosomal dominant spinocerebellar ataxia, type34 (SCA34, erythrokerastoderma with ataxe-MIM#133190), among other things.

Mutations in the LORICRIN gene on chromosome 1q21 and in connexin genes (GJB3, GJB4, GJA1) have also been discussed for this clinical picture. Connexin mutations lead to impaired cell-cell communication due to defective gap junctions. Loricrin is a main component of the epidermal cornified cell envelope.

Early adolescence to early adulthood.

Extensive, symmetrical, sharply defined, partly reddened, partly pigmented, yellow to orange-colored, non-follicularly bound keratoses which are confluent to form hyperkerotic plaques. Isomorphic irritant effect. Erythematous palmoplantar keratoderma is found in half of the cases. Neurological abnormalities, including deafness, may be associated (neurological controls are necessary).

Erythrokeratodermia figurata variabilis (erythrokeratoderma variabilis, first described by Mendes da Costa, is characterized by migratory erythematous plaques)

Pityriasis rubra pilaris

Netherton syndrome (typical clinic with circinate desquamation)

the entire spectrum of non-blistering congenital ichthyoses.

Mild keratolytic ointments such as 3% salicylic vaseline (e.g. Salicylvaseline Lichtenstein, R228 ) as well as salt baths (e.g. 1% table salt or with salt from the dead sea) or PUVA bath photochemotherapy.

Trial with 2% ichthyol cream as an antiphlogistic component.

If necessary, try retinoids, externally (e.g. tazarotene) or alpha hydroxy acid.

Internal: systemic therapy with etretinate, isotretinoin or acitretin.

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