Management of Skin Symptoms in a Rare Case of Hypohidrotic Ectodermal Dysplasia Management of skin symptoms in a Hypohidrotic Ectodermal Dysplasia
Student Research in Translational Medicine,
Vol. 7 (2025),
1 March 2025
,
Page 1-4
https://doi.org/10.22037/srtm.v7.44044
Abstract
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects multiple body systems and is characterized by a triad of symptoms that impact hair, teeth, and sweat glands. Diagnosis of HED is primarily based on physical features and is confirmed through genetic testing. Currently, the available treatment options for HED are limited to general medical interventions such as the use of skincare products and prosthetic dental treatment. We present a patient with HED who exhibited typical symptoms in the face and oral cavity. The patient was treated with a topical combination therapy for severe dyskeratosis. The purpose of this report is to increase awareness of HED within the dermatology community and provide information on its diagnosis and management also early diagnosis can enable prompt intervention, relevant therapy and support.
- hypohidrotic ectodermal dysplasia
- ectodermal dysplasia
- Christ-Siemens-Touraine syndrome
- case report
How to Cite
References
Wohlfart S, Hammersen J, Schneider H. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements. Journal of human genetics. 2016;61(10):891-7.
Trzeciak WH, Koczorowski R. Molecular basis of hypohidrotic ectodermal dysplasia: an update. Journal of applied genetics. 2016;57:51-61.
Huang S, Liang J, Sui W, Lin H, Xue W, Chen J, et al. EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature. Genet Mol Res. 2015;14(3):10344-51.
Pozo‐Molina G, Reyes‐Reali J, Mendoza‐Ramos MI, Villalobos‐Molina R, Garrido‐Guerrero E, Méndez‐Cruz AR. Novel missense mutation in the EDA 1 gene identified in a family with hypohidrotic ectodermal dysplasia. International journal of dermatology. 2015;54(7):790-4.
Reyes‐Reali J, Mendoza‐Ramos MI, Garrido‐Guerrero E, Méndez‐Catalá CF, Méndez‐Cruz AR, Pozo‐Molina G. Hypohidrotic ectodermal dysplasia: clinical and molecular review. International journal of dermatology. 2018;57(8):965-72.
Ramesh K, Vinola D, John JB. Hypohidrotic ectodermal dysplasia-diagnostic aids and a report of 5 cases. Journal of Indian Society of Pedodontics and Preventive Dentistry. 2010;28(1):47-54.
Aftab H, Escudero IA, Sahhar F. X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED): A Case Report and Overview of the Diagnosis and Multidisciplinary Modality Treatments. Cureus. 2023;15(6).
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