Phenotypic Heterogeneity in Bullous Congenital Ichthyosiform Erythroderma

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

“…In a cautionary report by Nomura et al, only a small, unsatisfactory sample of lesional tissue was retrieved from the mother of a child with epidermolytic ichthyosis, yielding no identifiable cutaneous pathogenic variant. Secondary peripheral analysis of the mother's leukocyte DNA revealed a pathogenic variant within the KRT1 gene, and her son had the same pathogenic variant in the analysis of both his skin and leukocytes 15 …”

“…Flexural involvement was common 6–12,14,15 . The color of the nevi ranged from lightly pigmented to dark brown 6,7 .…”

“…Flexural involvement was common. [6][7][8][9][10][11][12]14,15 The color of the nevi ranged from lightly pigmented to dark brown. 6,7 Some nevi were described as comedonal groupings.…”

“…PubMed and Google Scholar search identified 13 cases in which a parent with a linear epidermal nevus with EHK transmitted epidermolytic ichthyosis to their child. [6][7][8][9][10][11][12][13][14][15][16] The cases are summarized in Table 1.…”

“…Secondary peripheral analysis of the mother's leukocyte DNA revealed a pathogenic variant within the KRT1 gene, and her son had the same pathogenic variant in the analysis of both his skin and leukocytes. 15 While genetic testing on peripheral blood samples is sometimes performed, the sensitivity compared to direct lesional tissue analysis remains inferior. Several reports reiterate this point as punch biopsy analysis demonstrated a pathogenic variant while peripheral blood analysis did not.…”