| Autor: |
Atzmony, Lihi, Ugwu, Nelson, Hamilton, Claire, Paller, Amy S., Zech, Loren, Antaya, Richard J., Choate, Keith A. |
| Předmět: |
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| Zdroj: |
Pediatric Dermatology; Nov2022, Vol. 39 Issue 6, p903-907, 5p |
| Abstrakt: |
Background: Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disease characterized by pruritic erythematous scaly plaques distributed along the lines of Blaschko. Two cases of ILVEN with CARD14 mutations and one case with a GJA1 mutation have been previously reported. Objective: To elucidate the genetic cause of a cohort of patients diagnosed based on clinical and histopathological evaluation with ILVEN. Methods: We recruited patients diagnosed with ILVEN based on clinical and histopathological criteria. Exome sequencing of affected skin with or without blood/saliva was performed and germline and somatic pathogenic variants were identified. Results: Five patients were enrolled. All had skin lesions from birth or early childhood. Two patients developed psoriasis vulgaris after the diagnosis of ILVEN. The first had a germline heterozygous CARD14 mutation and a post‐zygotic hotspot mutation in KRT10. The histopathologic evaluation did not show epidermolytic hyperkeratosis. The second had a post‐zygotic hotspot mutation in HRAS. Her ILVEN became itchy once psoriasis developed. One patient was re‐diagnosed with linear porokeratosis based on a germline mutation in PMVK and a post‐zygotic second‐hit mutation. Two patients were re‐diagnosed with congenital hemidysplasia with ichthyosiform nevus and limb defect nevus based on germline NSDHL mutations. Conclusion: ILVEN is a clinical descriptor for a heterogenous group of mosaic inflammatory disorders. Genetic analysis has the potential to more precisely categorize ILVEN and permits pathogenesis‐directed therapies in some cases. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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