A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement

• Published in: International journal of molecular sciences Vol. 24; no. 8; p. 7155
• Main Authors: Schneider, Holm, Schweikl, Christine, Faschingbauer, Florian, Hadj-Rabia, Smail, Schneider, Pascal
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 12.04.2023; MDPI
• Subjects: Child; Child, Preschool; Ectodermal dysplasia; Ectodermal Dysplasia - genetics; Ectodermal Dysplasia 1, Anhidrotic - genetics; Ectodermal Dysplasia 1, Anhidrotic - therapy; Ectodysplasins - genetics; Female; Hair; Humans; Infant; Male; Pregnancy; Pregnant women; Recombinant Proteins; Sweating; Germany; tooth development; ectodermal dysplasia; AlphaLisa; sweat glands; prenatal therapy; ectodysplasin A; protein replacement

X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as hair, sweat glands, and teeth. The absence of sweat glands and perspiration can evoke life-threatening hyperthermia. As mo...