Erythrokeratoderma variabilis

Last Updated: 2023-10-12

Author(s): Lindemann H.

ICD11: Q82.8

F. Rille, 1922; S. Mendes Da Costa, 1925

Erythrokeratoderma variabilis type Mendes da Costa; EKV; Erythrokeratoderma variabilis et progressiva; Erythrokeratodermia figurata variabilis; EKVP; Keratitis rubra figurata (groove); Mendes da Costa syndrome

Erythrokeratoderma variablilis is a very rare, clinically variable and genetically heterogeneous group of diseases. Clinically, it presents as a variable, ichthyosiform dermatosis. There are extensive plaques that are stationary or migratory ( variabilis) and sometimes associated with migratory hyperkeratosis. Often the symptoms are present from birth or develop in early childhood. More rarely, the skin changes only appear in early adulthood (up to 30 years of age).

The incidence is not known. So far, more than 200 patients have been described.

EKVP1 (OMIM: 133200)
EKVP2 (OMIM: 617524)
EKVP3 (OMIM: 617525)
EKVP4 (OMIM: 617526)
EKVP5 (OMIM: 617756)
EKVP6 (OMIM: 618531)
EKVP7 (OMIM: 619209)

EKVP1: AD, AR Inheritance. Mutations in the GJB3 gene (1q34.3)
EKVP2: AD inheritance. Mutations in the GJB4 gene (1q34.3)
EKVP3: AD inheritance. Mutations in the GJA1 gene (6q22.31)
EKVP4: AR Inheritance. Mutations in the KDSR gene (18q21.33)
EKVP5: AR Inheritance. Mutations in the KRT83 gene (12q13.13)
EKVP6: AD Inheritance. Mutations in the TRPM4 gene (19q13.33)
EKVP7: AR Inheritance. Mutations in the PERP gene (6q23.3)

Scaly papules and plaques with varying clinical expressivity and intensity are seen. The skin changes appear inital as flat, red papules. In the course of the disease, they typically migrate, have a bizarre configuration or are arranged anularly. Foci may heal centrally. In the course of the disease, they present as large, red-brown plaques. Itching and burning may occur.

Many patients present with palmoplantar hyperkeratosis

The diagnosis is usually made clinically and histologically.

The face and extremities, as well as the buttock region, are particularly affected. In about 50% of cases, the hands and feet are also affected. Hair, nails and teeth are not affected

Mild perivascular lymphocytic inflitration is seen as evidence of disease. There is focal parakeratosis with other orthokeratosis. Acanthosis and papillomatosis may be observed as well as dyskeratotic keratinocytes.

The skin lesions tend to worsen with heat.

The disease shows a tendency to spontaneously regress.

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