Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.
KRT2
epidermal nevus
somatic mutation
superficial epidermolytic ichthyosis
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
pubmed:
9
2
2021
medline:
15
5
2021
entrez:
8
2
2021
Statut:
ppublish
Résumé
Superficial epidermolytic ichthyosis (formerly Ichthyosis bullosa of Siemens) is an uncommon condition caused by dominant mutations in KRT2 encoding keratin 2. Epidermolytic epidermal nevus due to somatic mutations in KRT2 is even rarer. Here, we report the third case of KRT2-associated epidermal nevus and review the literature.
Substances chimiques
KRT2 protein, human
0
Keratin-2
0
Keratins
68238-35-7
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
538-540Subventions
Organisme : Ram family foundation
Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
Rothnagel JA, Traupe H, Wojcik S, et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet. 1994;7(4):485-490.
Paller AS, Syder AJ, Chan YM, et al. Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med. 1994;331(21):1408-1415.
Tsubota A, Akiyama M, Sakai K, et al. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. J Invest Dermatol. 2007;127(6):1371-1374.
Li Y, Cheng R, Liang J, Yao Z, Li M. The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence. Mol Genet Genom Med. 2020;8(11):e1457.
Diociaiuti A, Castiglia D, Corbeddu M, et al. First case of KRT2 epidermolytic nevus and novel clinical and genetic findings in 26 Italian patients with keratinopathic ichthyoses. Int J Mol Sci. 2020;21(20):7707.
Hotz A, Oji V, Bourrat E, et al. Expanding the clinical and genetic spectrum of KRT1, KRT2 and KRT10 mutations in keratinopathic ichthyosis. Acta Derm Venereol. 2016;96(4):473-478.