John Libbey Eurotext

European Journal of Dermatology


Novel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window Volume 29, numéro 1, January-February 2019


  • Figure 1
Department of Dermatology,
Beijing Children's Hospital,
Capital Medical University,
National Center for Children's Health,

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 body [...]