Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders

Pediatr Dermatol. 2022 Nov;39(6):903-907. doi: 10.1111/pde.15094. Epub 2022 Jul 19.


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.

Keywords: CHILD syndrome; epidermal nevus; genetic skin diseases; inflammatory linear verrucous epidermal nevus; mosaicism.

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases
  • CARD Signaling Adaptor Proteins
  • Child, Preschool
  • Female
  • Guanylate Cyclase / therapeutic use
  • Humans
  • Membrane Proteins
  • Nevus* / diagnosis
  • Nevus* / genetics
  • Nevus* / pathology
  • Nevus, Pigmented*
  • Nevus, Sebaceous of Jadassohn* / diagnosis
  • Nevus, Sebaceous of Jadassohn* / genetics
  • Psoriasis* / drug therapy
  • Skin Diseases*
  • Skin Neoplasms* / pathology


  • CARD14 protein, human
  • Guanylate Cyclase
  • Membrane Proteins
  • CARD Signaling Adaptor Proteins
  • Nsdhl protein, human
  • 3-Hydroxysteroid Dehydrogenases