Mutation Causes Ectodermal Dysplasia in a Patient Mosaic for Turner Syndrome.

plays a role in the proper proliferation and differentiation of ectodermal structures. Mutations in this gene can be responsible for a highly phenotypically variable range of disorders termed . Here, we describe the case of a five-year-old male patient who is mosaic for Turner syndrome (45,X [90%]/46,X isodicentric Y [10%]) and who presented to dermatology with anhidrosis, conical-shaped teeth, and a slowed rate of hair growth with genetic testing subsequently revealing a likely pathogenic heterozygous variant in (c.682T>A; p.Phe228Ile). Future investigation into the pathway, which is regulated downstream by β-catenin, might allow topical therapeutics to be developed that promote normal ectodermal growth and differentiation. Current management for this patient includes precautions taken to prevent overheating and heat stroke and close dermatological and dental monitoring.