We present a family with an inherited disorder of cornification. The clinical features are much less severe and developed much later in life than is usual in bullous ichthyosis. Skin biopsy demonstrated epidermolytic hyperkeratosis, a feature typical of bullous ichthyosis. The family is reported both to highlight the wide interfamilial variation that may occur in this condition and the value of histology in classifying this form of ichthyosis.
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Vulvar Epidermolytic Hyperkeratosis: A Comprehensive Systematic Review of Case Reports and Series.
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Department of Oncologic Dermatology-Elias Emergency University Hospital, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
: Vulvar epidermolytic hyperkeratosis (EHK) is an exceedingly rare dermatological condition, often presenting as solitary or multiple lesions in the vulvar region. Due to its clinical resemblance to other vulvar disorders, such as condyloma acuminatum, Bowenoid papulosis, and squamous cell carcinoma, vulvar EHK poses significant diagnostic challenges. While individual case reports and small case series have documented instances of vulvar EHK, comprehensive studies systematically consolidating the clinical, histopathological, and therapeutic aspects of this condition remain lacking.
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Department of Dermatology, University Hospitals Cleveland Medical Center, Cleveland, OH; and.
Background: Focal acantholytic dyskeratosis (FAD) and epidermolytic hyperkeratosis (EHK) are common incidental epidermal histologic findings within dysplastic nevi biopsies. We evaluate whether areas of FAD and EHK within dysplastic nevi biopsies stain with immunostains used to characterize melanocytic neoplasms.
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Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
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Epidermolytic ichthyosis (EI) is a type of congenital ichthyosis, characterized by erythema and blistering at birth followed by hyperkeratosis. EI is caused by pathogenic variants in the genes KRT1 and KRT10, encoding the proteins keratin 1 (KRT1) and keratin 10 (KRT10), respectively, and is primarily transmitted by autosomal-dominant inheritance, although recessive inheritance caused by nonsense variants in KRT10 is also described. The keratins form a network of intermediate filaments and are a structural component of the cytoskeleton, giving strength and resilience to the skin.
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Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA.
Article Synopsis
- * In rare cases, linear epidermal nevi can be passed down to children as epidermolytic ichthyosis, leading to severe skin symptoms at birth and ongoing skin issues.
- * Cases of EHK transmission are more common when multiple body areas are affected by epidermal nevi, indicating a higher genetic risk, thus a genetics consultation is advised for affected individuals.
Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.
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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.
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