The skin is the largest organ in humans and it plays an important role as a protection against dehydration and infections as well as in thermoregulation and as a sense organ. Defects in this skin barrier can have tremendous health consequences and even lead to early demise. We report a non-consanguineous family who lost two boys with a severe genodermatosis, presenting as a collodion baby in the neonatal period. The evolution was characterized by neurological involvement and recurrent infections, leading to death betwen one and two years of age.
Genetic investigations could identify an autosomal recessive monogenic condition explainingthe phenothype of the children
Original languageEnglish
Title of host publicationhttp://eurodysmorpho.org/wp-content/uploads/2018/02/EuroDysmorpho-Abstract-book-2017.pdf
Pages16-16
Number of pages1
Publication statusPublished - 2017

ID: 37116118