CST6-sEDD
Previously: Ectodermal dysplasia 15, hypohidrotic/hair type
Key Clinical Clues
Generalized fine scaling; PPK; variable hypotrichosis; hypohidrosis.
Additional Extracutaneous Features
Blepharitis, photophobia.
References
Bellon N, Hadj-Rabia S, Moulin F et al. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations. Br J Dermatol 2021; 184:532-7. || Prodinger C, Yerlett N, MacDonald C et al. Characteristics of children with Netherton syndrome: a review of 21 patients. J Eur Acad Dermatol Venereol 2021; 35:e466-9. || van den Bogaard EHJ, van Geel M, van Vlijmen-Willems IMJJ et al. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. Genet Med 2019; 21:1559-67.
Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer
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