Conradi-Hünermann-Happle syndrome with minimal signs.
Alopecia
Genetic diseases/mechanisms
Genodermatoses
Ichthyosis
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
pubmed:
9
11
2021
medline:
24
12
2021
entrez:
8
11
2021
Statut:
ppublish
Résumé
A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi-Hünermann-Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation.
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1592-1593Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
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Has C, Bruckner-Tuderman L, Müller D, et al. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Hum Mol Genet. 2000;9(13):1951-1955.
Kolb-Mäurer A, Grzeschik K-H, Haas D, Bröcker E-B, Hamm H. Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. Acta Derm Venereol. 2008;88(1):47-51.
Leclerc-Mercier S, Dufernez F, Fraitag S, et al. Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation. Br J Dermatol. 2015;173(5):1316-1318.
Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taıeb A, Lacombe D. Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hünermann-Happle syndrome associated with a novel EBP mutation. Arch Dermatol. 2011;147(9):1072-1076.