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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997078 | PMC |
| http://dx.doi.org/10.5021/ad.2019.31.S.S49 | DOI Listing |
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Adult-onset erythrokeratodermia variabilis (EKV) triggered by pregnancy and crash dieting: A rare case report.
J Pak Med Assoc
September 2024
Department of Dermatology, PNS Shifa Hospital, Karachi, Pakistan.
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.
Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.
Pediatr Dermatol
November 2024
Department of Dermatology-Venereology and Allergology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.
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.
View Article and Find Full Text PDFA novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
Acta Neuropathol Commun
August 2023
Department of Cell Biology, University of Oklahoma Health Sciences Center, DMEI 423 Parke Pavilion, 608 Stanton L. Young Boulevard, Oklahoma City, OK, 73104, USA.
Article Synopsis
- - Spinocerebellar ataxia 34 (SCA34) is a hereditary disease linked to mutations in the ELOVL4 gene, leading to cerebellar degeneration and motor coordination issues, also involving tissue-specific disorders like skin and retinal conditions.
- - The case study highlights a young girl with early-onset severe cerebellar degeneration and retinal dysfunction connected to a novel mutation in the ELOVL4 gene, indicated by MRI and electroretinography findings.
- - Research aims to explore how the newly identified ELOVL4 variant affects the enzyme's ability to synthesize important fatty acids, potentially explaining the link between the mutation and the patient's neurological and visual impairments.
Erythrokeratodermia.
JAMA Dermatol
August 2023
Department of Anatomic Pathology, Hospital San Pablo, Universidad Catolica del Norte, Coquimbo, Chile.
Netherton syndrome in a Bulgarian patient : Presentation of a case and an update of therapeutic options.
Wien Med Wochenschr
September 2023
Onkoderma-Clinic for Dermatology, Venereology and Dermatologic Surgery, General Skobelev 26, 1606, Sofia, Bulgaria.
Article Synopsis
- Comel-Netherton syndrome (Netherton syndrome) is a rare genetic skin condition that can severely impact patients' social skills and mental health, making diagnosis difficult as it often resembles other skin disorders.
- Accurate diagnosis requires careful clinical and histological assessments, sometimes needing multiple biopsies due to its similarity with conditions like severe atopic dermatitis.
- Current treatments include retinoids and systemic therapies, but there's a push for innovative therapies like targeted and anti-cytokine medications to better address the inflammatory aspects of the disease.
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