Netherton syndrome: growth and endocrine assessment in a retrospective study of 37 paediatric patients
In this large retrospective cohort study of children with the syndromic epidermal differentiation disorder (sEDD) Netherton syndrome (now known as SPINK5-sEDD), we have further described the endocrine complications, as well as the frequency of growth hormone resistance, corticotropic insufficiency and rickets, thereby informing the need for systematic screening.
Authors
- N. Bellon (ORCID: https://orcid.org/0000-0003-3311-1674)
- Pauline Bataille (ORCID: https://orcid.org/0000-0002-6975-5941)
- Cécile Lambe (ORCID: https://orcid.org/0000-0002-0265-8725)
- Alice Clerc
- Fabienne Charbit‐Henrion (ORCID: https://orcid.org/0000-0003-4615-3953)
- Graziella Pinto (ORCID: https://orcid.org/0000-0002-5237-0631)
- Christine Bodemer (ORCID: https://orcid.org/0000-0002-3089-5744)
Institutions
- Hôpital Necker-Enfants Malades (FR)
- Institut Necker Enfants Malades (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-11-19
- DOI
- https://doi.org/10.1093/bjd/ljaf467
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00