The clinically and genetically heterogeneous group of erythrokeratodermas encompasses several rare genetic skin disorders, including autosomal dominant erythrokeratodermia variabilis (EKV) and progressive symmetric erythrokeratoderma (PSEK) (OMIM # 133200), as well as autosomal dominant spinocerebellar ataxia with erythrokeratodermia (Giroux and Barbeau; SCA34;OMIM # 133190). The skin lesions of EKV and PSEK show many similarities, and a small subset of patients with features previously considered to be PSEK share the underlying cause of EKV. Therefore, it was recently proposed to classify this disorder as erythrokeratodermia variabilis et progressiva (EKVP).
Nevertheless, PSEK and overlapping forms of erythrokeratoderma do exist as genetically distinct and heterogeneous entities from EKVP.
EKVP is characterized by the coexistence of two distinct morphologic features: hyperkeratosis and transient erythema, albeit one of these features may predominate. de Buy Wenninger recognized and described the first cases of erythrokeratodermia variabilis in the Netherlands in 1907.
In 1925, Mendes da Costa presented a detailed clinical description of the disease in a mother and daughter, reviewed eight similar cases that were previously published, and coined the name “erythro- et keratodermia variabilis.”
During the next decades, multiple case reports emerged in the Northern European literature, including a study of 33 affected members of a Dutch family and 29 affected persons in 5 generations of a Swiss family.
In 1964, Barsky and Bernstein reported the first case in the American literature.
The first family in which affected members had features of either EKV or PSEK was reported in 1991.