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: 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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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.

Methods: In this case series, a natural language search of histopathology reports from our institution in the past year (2020-2021) identified dysplastic nevus biopsies with concurrent FAD and/or EHK.

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Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.

J Dermatol

September 2024

Department of Dermatology, UMCG Center of Expertise for Blistering Diseases, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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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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.
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