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

Abstract

A 7-year-old girl had well-demarcated erythematous plaques covered with white pityriasiform scales which were symmetrically distributed and involved the extensor surfaces of the extremities as well as the abdomen, buttocks and face. Histological examination showed marked hyperkeratosis with parakeratosis, and a thickened granular cell layer, mild acanthosis and slight lymphocytic infiltration surrounding the papillary blood vessels, compatible with a diagnosis of progressive symmetrical erythrokeratodermia. Remarkably, a keratotic excrescence similar to a normal nail plate involved the tip of the nose since the age of 6 months. Moreover, occipital hairlessness, oligodontia and severe caries were noted. Progressive symmetric erythrokeratodermia has so far been described as a non-syndromic skin disorder, which is why our patient’s multisystem birth defect may represent a new entity.

Progressive symmetric erythrokeratoderma: report of an Indian family

“…Erythrokeratodermas have been divided into two major non‐syndromic types, PSEK and erythrokeratodermia variabilis (EKV) . Although these have many overlapping features, both have long been regarded as separate entities.…”

Progressive symmetric erythrokeratoderma: Report of a Chinese family

“…[2] Although there is no literature reported about mycological prevalence in diseased nails of PSEK, recurrent fungal infections is one of the characteristics of KID (keratitis, ichthyosis, deafness) /HID (hystrixlike, ichthyosis, deafness) syndrome. [3] Erythrokeratodermas have been divided into two major non-syndromic types [4] and some syndromes such as KID [5,6] and HID syndrome. The two major non-syndromic types have been described as PSEK and erythrokeratoderma variabilis (EKV).…”

Progressive symmetric erythrokeratoderma with nephrotic syndrome: Coincidence or new association?

“…[2] The two major non-syndromic types have been described as PSEK and erythrokeratoderma variabilis (EKV). [3] It was first described by Darier in 1911 as “progressive and symmetrical verrucous erythrokeratoderma.” Gottron shortened the name of this condition to “symmetrical progressive erythrokeratoderma.”[4] PSEK is heterogeneous with considerable phenotypic variability. Although some cases have been identified to have loricrin and few to have connexin mutations in PSEK, EKV, or both, recent reports show that the same gene mutations were not found in some pedigree of PSEK.…”