Erythrokeratodermia figurata variabilis Q82.8

Rare, congenital or up to 30 years of age, clinically very variable genodermatosis associated with extensive erythema.

Mutations of the GJB3 and GJB4 genes (encoding the gap junction connexins beta 3 and beta 4) have been shown to cause expression of defective connexins and thus impaired intercellular contacts. There is autosomal dominant inheritance with almost complete penetrance and intrafamilial variability.

Furthermore, "de novo missense mutations" of the GJA1 gene(gap junction protein alpha 1) have been detected. GJA1 encodes connexin 43 (Cx43), an important gap junction protein.

Often already present at birth or manifesting in the first year of life. Rarely do the first skin changes occur in childhood or early adulthood.

Predilection sites are the face, the extremities and the buttock region. No preference for the extensor or flexor sides. Palms and soles of the feet are also affected in 50% of cases. Hair and nails are inconspicuous.

Migrating (variable = variabilis), bizarrely configured, anular or polycyclic scaly papules and plaques with varying clinical expressivity and acuteity. Initially flat, red papules with slow, centrifugal growth are found. Urticarial or multiforme HV are also possible.

Older foci present as large red or reddish-brown plaques, mostly borderline. Central healing is possible, so that anular and by confluence polycyclic patterns can develop. Often peripheral, coarse-lamellar scaly ruffs. There are also locally fixed (e.g. knees), less reddened keratotic plaques (pressure-exposed areas). The majority of patients develop a pronounced palmoplantar keratosis.

The skin changes are usually less symptomatic, itching and even burning are possible.

Typically, a deterioration of the skin condition is indicated by heat.

Orthohyperkeratosis with focal parakeratosis in acanthosis and papillomatosis; isolated dyskeratotic keratinocytes. Accompanying mild perivascular oriented lymphocytic infiltrates are found. No epidermotropia.

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