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A novel mutation in the EDA gene in a Filipino family with X-linked hypohidrotic ectodermal dysplasia

Authors: Bryan Edgar K. Guevara,MD, Maria Vinna N. Crisostomo,MD, Chao-Kai Hsu,MD, Lu Liu,MD, Maria Mercedes S. Cauilan, MD, FPDS and John A. McGrath, MD, FRCP, FMedSci


X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder that affects the development and function of several structures of ectodermal origin, such as hair, teeth and sweat glands. It is associated with ectodysplasin-A (EDA) gene mutation, necessary for ectodermal development.
We present a case of two brothers who were referred to our clinic due to recurrent fever and rash. Prior to referral, patients had multiple admissions due to fever and underwent a series of tests to determine the cause of fever but to no avail. Upon examination, erythematous scaly papules and plaques on the extremities, alopecia, absence of dermatoglyphic patterns, and atypical facial features were noted. Skin biopsy revealed absence of eccrine glands. Genetic analysis revealed EDA mutation in exon 8 that resulted in a delayed termination codon rather than a premature termination codon, causing XLHED. This novel mutation has never been reported in the literature.



Guevara, BE, Crisostomo, MV, Hsu, CK, Liu, L, Cauilan, MM, & Mcgrath, JA. (2017). A novel mutation in the EDA gene in a Filipino family with X-linked hypohidrotic ectodermal dysplasia. Journal of the Philippine Dermatological Society, 26(1), 46-50.



genodermatosis, molecular pathology

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A novel mutation in the EDA gene in a Filipino family with X-linked hypohidrotic ectodermal dysplasia