Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy

Melissa Riachi; Satyamaanasa Polubothu; Paulina Stadnik; Connor Hughes; Sara Barberan Martin; Carolyn R Charman; Iek Leng Cheng; Karolina Gholam; Olumide Ogunbiyi; David G Paige; Neil J Sebire; Alan Pittman; Wei-Li Di; Veronica A Kinsler

doi:10.1016/j.jid.2021.02.765

Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy

J Invest Dermatol. 2021 Dec;141(12):2979-2983.e1. doi: 10.1016/j.jid.2021.02.765. Epub 2021 Jun 8.

Authors

Affiliations

¹ Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom.
² Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom; Paediatric Dermatology, Great Ormond Street Hospital for Children, London, United Kingdom.
³ Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
⁴ Dermatology, Royal Devon and Exeter Hospital, Exeter, United Kingdom.
⁵ Pharmacy, Great Ormond Street Hospital for Children, London, United Kingdom.
⁶ Paediatric Dermatology, Great Ormond Street Hospital for Children, London, United Kingdom.
⁷ Paediatric Pathology, Department of Histopathology, Great Ormond Street Hospital for Children, London, United Kingdom.
⁸ Dermatology, Royal London Hospital, London, United Kingdom.
⁹ Bioinformatics, St George's University of London, London, United Kingdom.
¹⁰ Immunobiology Section, Infection, Immunity and Inflammation Programme, University College London Great Ormond Street Institute of Child Health, London, United Kingdom.
¹¹ Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom; Paediatric Dermatology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address: [email protected].

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Biopsy
CARD Signaling Adaptor Proteins / genetics
Case-Control Studies
Child
Child, Preschool
Connexin 43 / genetics
Female
Guanylate Cyclase / genetics
Humans
Infant
Inflammation
Keratinocytes / immunology*
Keratinocytes / metabolism
Male
Membrane Proteins / genetics
Molecular Biology*
Molecular Targeted Therapy / methods*
Mosaicism
Mutation, Missense
Nevus, Sebaceous of Jadassohn / genetics*
Nevus, Sebaceous of Jadassohn / therapy*
Treatment Outcome

Substances

CARD Signaling Adaptor Proteins
Connexin 43
GJA1 protein, human
Membrane Proteins
CARD14 protein, human
Guanylate Cyclase

Publication types

MeSH terms

Substances

Grants and funding