Erythrokeratodermia Variabilis et Progressiva  Workup

Updated: May 30, 2017
  • Author: Gabriele Richard, MD, FACMG; Chief Editor: Dirk M Elston, MD  more...
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Laboratory Studies

The diagnosis of erythrokeratodermia variabilis et progressiva (EKVP) is established on the basis of clinical features. Molecular genetic testing for sequence variants in the GJB3, GJB4, and GJA1 genes is available (also as next-generation sequencing panel) and expected to yield a positive result in at least two thirds of patients.


Histologic Findings

The histopathologic features in erythrokeratodermia variabilis et progressiva (EKVP) include orthokeratotic hyperkeratosis, moderate-to-severe acanthosis, and papillomatosis. Although these features are nonspecific, the basket-weave hyperkeratosis may indicate erythrokeratodermia variabilis. In addition, dilated and elongated capillaries are present, with little perivascular inflammation in the papillary dermis. Severe papillomatosis with suprapapillary thinning may result in a church-spire configuration of the epidermis.