Erythrokeratoderma variabilis and variable circinate erythrokeratodermas

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

“…The clinical pattern of the younger patient (proband) showed the coexistence of migratory erythematous component with scaly, annular patches and the manifestation of a diffuse xerosis clinically resembling ichthyosiform-like lesions, distinct from those in classical EKV. Although, annular erythematous lesions with scaling have been described only rarely in patients with typical features of EKV [ 6 ], the ichthyosis appearance raised the question of whether the EKV phenotype exhibited by the younger patient is distinct from ichthyosiform genodermatoses that may involve erythematous and hyperkeratotic components [ 18 , 44 ]. The annular epidermolytic ichthyosis (MIM 607602) variant of bullous congenital ichthyosiform erythroderma was excluded based on the absence of epidermolytic hyperkeratosis in histology [ 45 ].…”

“…The condition tends to present at birth or during the first year, more rarely occurs later in childhood and even in early adulthood [ 5 ]. Because of its rarity and considerable clinical variability, the classification of EKV tends to be difficult particularly as there is phenotypic overlap with other erythrokeratodermas and also the existence of several rare variants of EKV [ 6 – 9 ]. The disease is usually inherited in an autosomal dominant trait.…”

Progressive Symmetric Erythrokeratodermia

“…Variable EK [3,2] (erythro -et keratodermia variabilis Mendes da Costa; Keratosis rubra figurata s. variegata, Rille; Keratodermia figurata variabilis, Miescher). In this disease erythematous lesions coexist with hyperkeratotic plaques.…”