Erythrokeratodermas: A classification in a state of flux?

Abstract

The term 'erythrokeratodermas' or 'erythrokeratodermias' has been applied to a group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques. Connexin mutations have been demonstrated to be responsible for most cases of erythrokeratoderma variabilis but there remain some cases without demonstrated connexin mutations, suggesting genetic heterogeneity. The position of progressive symmetric erythrokeratoderma has become rather unclear. Loricin mutations have been found in some cases that clinically resemble variant Vohwinkel syndrome and other cases have features that overlap with those of erythrokeratoderma variablis. Whether progressive symmetric erythrokeratoderma exists as a distinct entity is under question.

Erythrokeratodermia variabilis: Two case reports

“…PSEK differs in the absence of migratory erythematosus lesions and in greater incidence of palmoplantar keratoderma. [7] A distinctive feature of EKV from PSEK is the lack of facial involvement. [6] Histopathological findings of PSEK are non-specific as well.…”

“…Patients with PSEK have been successfully treated with retinoids, however, the rate of recurrence is high. [7]…”

“…[15] There was symptomatic relief of the pruritus associated with the erythematous component in two patients in one family with the use of an oral non-sedating H1 anthistamine. [7]…”

Progressive Symmetric Erythrokeratodermia Associated with Oligodontia, Severe Caries, Disturbed Hair Growth and Ectopic Nail: A New Syndrome?

“…Initially, a clinical diagnosis of progressive symmetric erythrokeratodermia was made, based on the presence of erythematous hyperkeratotic plaques symmetrically involving the extremities, the buttocks, the trunk and the face [3]. Subsequently, it became obvious that the patient had a most unusual syndrome including progressive symmetric erythrokeratodermia, occipital hairlessness, oligodontia, severe caries and an ectopic nail.…”

Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?

“…A unique finding in the proband was the presence of focal infiltrating neutrophils in the granular layer. The ultra-structural changes of EKV vary from one report to the other (5). Two studies sbowed decreased number of keratinosomes in granular layers (4,6), whereas another study noticed a normal number of keratinosomes (7).…”