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Inherited disorder of keratinization

MedGen UID:
634282
•Concept ID:
C0474892
•
Congenital Abnormality
SNOMED CT: Inherited disorder of keratinization (254214009)

Professional guidelines

PubMed

Management of Darier disease: A review of the literature and update.
Haber RN, Dib NG
Indian J Dermatol Venereol Leprol 2021 Jan-Feb;87(1):14-21. doi: 10.25259/IJDVL_963_19. PMID: 33580925
Management of Ichthyosis: A Brief Review.
Limmer AL, Nwannunu CE, Patel RR, Mui UN, Tyring SK
Skin Therapy Lett 2020 Jan;25(1):5-7. PMID: 32023022
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI
Am J Med Genet A 2019 Mar;179(3):442-447. Epub 2019 Jan 31 doi: 10.1002/ajmg.a.61045. PMID: 30703280Free PMC Article

Recent clinical studies

Etiology

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L
Pediatr Dermatol 2016 May;33(3):337-42. Epub 2016 Apr 4 doi: 10.1111/pde.12841. PMID: 27041546

Diagnosis

Disseminated superficial actinic porokeratosis improved with fractional 1927-nm laser treatments.
Ross NA, Rosenbaum LE, Saedi N, Arndt KA, Dover JS
J Cosmet Laser Ther 2016;18(1):53-5. Epub 2016 Jan 28 doi: 10.3109/14764172.2015.1063657. PMID: 26820042
Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma.
Amichai B, Karpati M, Goldman B, Peleg L
J Eur Acad Dermatol Venereol 2002 Mar;16(2):134-6. doi: 10.1046/j.1468-3083.2002.00426.x. PMID: 12046815
Olmsted syndrome.
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671

Therapy

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L
Pediatr Dermatol 2016 May;33(3):337-42. Epub 2016 Apr 4 doi: 10.1111/pde.12841. PMID: 27041546
Skeletal hyperostosis and extraosseous calcification in patients receiving long-term etretinate (Tigason).
Wilson DJ, Kay V, Charig M, Hughes DG, Creasy TS
Br J Dermatol 1988 Nov;119(5):597-607. doi: 10.1111/j.1365-2133.1988.tb03470.x. PMID: 3207613

Prognosis

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L
Pediatr Dermatol 2016 May;33(3):337-42. Epub 2016 Apr 4 doi: 10.1111/pde.12841. PMID: 27041546
A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.
Lin JH, Lin MH, Yang MH, Chao SC
Clin Exp Dermatol 2004 May;29(3):308-10. doi: 10.1111/j.1365-2230.2004.01497.x. PMID: 15115518

Clinical prediction guides

A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.
Lin JH, Lin MH, Yang MH, Chao SC
Clin Exp Dermatol 2004 May;29(3):308-10. doi: 10.1111/j.1365-2230.2004.01497.x. PMID: 15115518
Olmsted syndrome.
Fonseca E, Peña C, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F
J Cutan Pathol 2001 May;28(5):271-5. doi: 10.1034/j.1600-0560.2001.028005271.x. PMID: 11401671

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