KLICK syndrome: recognizable phenotype and hot-spotPOMPmutation

Autor: Fanny Morice-Picard, Juliette Mazereeuw-Hautier, A. Taieb, D Mermin, F. Boralevi, Christine Léauté-Labrèze, Nathalie Jonca, M. Pichery
Přispěvatelé: Service de dermatologie [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], CHU Toulouse [Toulouse]
Rok vydání: 2016
Předmět:
0301 basic medicine
MESH: Mutation
Hot spot (veterinary medicine)
Dermatology
MESH: DNA / genetics
MESH: Skin Diseases
Genetic / genetics
MESH: Phenotype
030207 dermatology & venereal diseases
03 medical and health sciences
MESH: Skin Abnormalities / metabolism
0302 clinical medicine
Dna genetics
MESH: Diagnosis
Differential
[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases
MESH: Child
Medicine
MESH: DNA Mutational Analysis
Skin pathology
Genetics
MESH: Humans
business.industry
MESH: Molecular Chaperones / genetics
MESH: Molecular Chaperones / metabolism
MESH: Skin Abnormalities / diagnosis
MESH: Skin Diseases
Genetic / diagnosis
Phenotype
MESH: Male
3. Good health
MESH: Skin / pathology
030104 developmental biology
Infectious Diseases
MESH: Skin Abnormalities / genetics
MESH: Skin Diseases
Genetic / metabolism
business
Genetic diagnosis
Zdroj: Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, Wiley, 2017, 31 (3), pp.e154-e156. ⟨10.1111/jdv.13898⟩
ISSN: 0926-9959
1468-3083
DOI: 10.1111/jdv.13898
Popis: International audience; KLICK syndrome constitutes a clinically recognizable ichthy-otic condition due to a 1-bp deletion in thePOMPgene. The lin-ear keratotic lesions constitute the most specific clinical featuresbut arise lately. Diffuse palmoplantar keratoderma with scleros-ing deformity of the fingers may represent the earliest skinabnormality clinically suggestive of the diagnosis. The initialabsence of the specific skin anomalies makes difficult an earlydiagnosis. As molecular confirmation of KLICK syndrome iseasy, search for the 1-bp deletion in POMP should be performedin young children presenting with undiagnosed sclerosing kera-toderma and ichthyosiform erythroderm.
Databáze: OpenAIRE
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