The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.

CONCLUSIONS: Our data emphasized that neonatal NS is a severe and sometimes lethal multisystem disorder; patients have a high risk of variable metabolic anomalies (i.e. lethal hypernatremia) and therefore have major nutritional needs; cases of NS associated with c.153delT are particularly severe. Unexpected clinical manifestations broadened the phenotypic spectrum of NS. We provided recommendations on the management of the life-threatening manifestations of NS in neonates based on our multidisciplinary experience.
PMID: 32479644 [PubMed - as supplied by publisher]

Source: The British Journal of Dermatology - May 31, 2020 Category: Dermatology Authors: Bellon N, Hadj-Rabia S, Moulin F, Lambe C, Lezmi G, Charbit-Henrion F, Alby C, Le Saché-de Peufeilhoux L, Leclerc-Mercier S, Hadchouel A, Steffann J, Hovnanian A, Lapillonne A, Bodemer C Tags: Br J Dermatol Source Type: research