Epidermal nevi and epidermolytic hyperkeratosis: A review of cases, highlighting indications for biopsy and genetics referral.

Autor: Nelson JM; University of Michigan Medical School, Ann Arbor, Michigan, USA., Isaac JM; Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan, USA., Mervak JE; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA., Mancuso JB; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA., Chan MP; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA.; Department of Pathology, University of Michigan, Ann Arbor, Michigan, USA., Arreola A; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA., Cha KB; Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2024 Sep-Oct; Vol. 41 (5), pp. 780-785. Date of Electronic Publication: 2024 Jun 19.
DOI: 10.1111/pde.15676
Abstrakt: Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ichthyosis, characterized by generalized erythema, blistering, and scaling at birth evolving to widespread hyperkeratosis. We present an updated review of reported cases of linear epidermal nevi with EHK exhibiting transmission of epidermolytic ichthyosis to guide important considerations in the care of individuals with epidermal nevi. Clinical characteristics of linear epidermal nevi do not reliably predict the presence of EHK. All reported cases of transmission to offspring have occurred in individuals with linear epidermal nevi involving more than one anatomic area suggesting increased reproductive risk with involvement of two or more anatomic sites. Therefore, genetics consultation is recommended for these individuals with biopsy-confirmed EHK. For individuals with smaller areas of epidermal nevus involvement, the implications are less well known, though genetics consultation may still be considered for those interested in further discussion of general reproductive risk.
(© 2024 The Author(s). Pediatric Dermatology published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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