European Journal of Dermatology
MENUNovel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window Volume 29, numéro 1, January-February 2019
Illustrations
Department of Dermatology,
Beijing Children's Hospital,
Capital Medical University,
National Center for Children's Health,
China
Beijing Children's Hospital,
Capital Medical University,
National Center for Children's Health,
China
- DOI : 10.1684/ejd.2018.3436
- Page(s) : 83-5
- Année de parution : 2019
Mutations in ABCA12 have been reported in autosomal recessive congenital ichthyoses (ARCI), including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). We report a patient with CIE carrying novel compound heterozygous mutations in ABCA12. A three-month-old male infant was born to non-consanguineous, healthy parents. At birth, he presented as a collodion baby with lesions consisting of whitish scales on an erythematous background over the whole [...]