AI Article Synopsis
- Erythrokeratodermia variabilis (EKV) is a rare genetic skin condition that involves changing red patches and fixed thick areas of skin, typically starting in infancy.
- A case is presented where a patient experienced EKV symptoms for the first time as an adult, which worsened during pregnancy but improved spontaneously after childbirth.
- After trying a crash diet, the patient developed more persistent symptoms that didn't resolve on their own, but showed significant improvement with treatment using systemic retinoids.
Article Abstract
Erythrokeratodermia variabilis (EKV) is a rare inherited genodermatosis characterised by migratory and erythematous patches changing over the course of hours to days and fixed keratotic plaques. The disease begins mostly at birth or within the first year of life; it very rarely starts after childhood. We present here a sporadic case with adult onset EKV that was aggravated by pregnancy with spontaneous resolution, and later on, after crash diet more persistent patches and plaques appeared with no spontaneous resolution. The patient showed excellent response to systemic retinoids.
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| http://dx.doi.org/10.47391/JPMA.9785 | DOI Listing |
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Article Synopsis
- Erythrokeratodermia variabilis (EKV) is a rare genetic skin condition that involves changing red patches and fixed thick areas of skin, typically starting in infancy.
- A case is presented where a patient experienced EKV symptoms for the first time as an adult, which worsened during pregnancy but improved spontaneously after childbirth.
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Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been rarely reported in CDS patients. Herein, we report clinical, histopathological and genetic findings of four patients with CDS presenting with different clinical forms of erythrokeratoderma (three with progressive symmetric erythrokeratoderma-like features and one with erythrokeratoderma variabilis (EKV)-like features), including one patient with a novel mutation in ABHD5.
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