Ectodermal dysplasia (ED) syndrome

Siew-Yin Chee¹, Chung-Hsing Wanga², Wei-De Lina³, Fuu-Jen Tsaia⁴

Affiliations

¹ Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan.
² College of Medicine, China Medical University, 404 Taichung, Taiwan ; Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan.
³ College of Medicine, China Medical University, 404 Taichung, Taiwan ; Department of Medical Research, China Medical University Hospital, 404 Taichung, Taiwan.
⁴ College of Medicine, China Medical University, 404 Taichung, Taiwan ; Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan ; Department of Medical Research, China Medical University Hospital, 404 Taichung, Taiwan.

PMID: 25520940
PMCID: PMC4264978
DOI: 10.7603/s40681-014-0027-9

Ectodermal dysplasia (ED) syndrome

Siew-Yin Chee et al. Biomedicine (Taipei). 2014.

. 2014;4(4):27.

doi: 10.7603/s40681-014-0027-9. Epub 2014 Nov 26.

Authors

Siew-Yin Chee¹, Chung-Hsing Wanga², Wei-De Lina³, Fuu-Jen Tsaia⁴

Affiliations

¹ Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan.
² College of Medicine, China Medical University, 404 Taichung, Taiwan ; Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan.
³ College of Medicine, China Medical University, 404 Taichung, Taiwan ; Department of Medical Research, China Medical University Hospital, 404 Taichung, Taiwan.
⁴ College of Medicine, China Medical University, 404 Taichung, Taiwan ; Department of Pediatrics and Medical Genetics, Children's Hospital, China Medical University Hospital, 404 Taichung, Taiwan ; Department of Medical Research, China Medical University Hospital, 404 Taichung, Taiwan.

PMID: 25520940
PMCID: PMC4264978
DOI: 10.7603/s40681-014-0027-9

Abstract

Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

Keywords: Ectodermal dysplasia (ED).

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Figures

**Fig. 1**
The patient was 5 year-old with obvious cone-shape teeth and scanty eyebrows.

**Fig. 2**
Frontal bossing, prominent supraorbital ridge, sunken cheeks, thick lips, low-set ears, scanty eyebrows and hypotrichosis with fine, sparse and brittle scalp hair but normal sexual hair (beard).

**Fig. 3**
Fragile-appearing dry skin with reduced hair follicles

See this image and copyright information in PMC

References

1. Atila F. Visinoni, Toni Lisboa-Costa. Ectodermal dysplasias: clinical and Molecular Review. Am J Med Genet Part A 2009; 149A: 1980–2002. - PubMed
1. Mikkola ML. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet Part A 2009; 149A: 2031–6. - PubMed

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Ectodermal dysplasia (ED) syndrome

Affiliations

Ectodermal dysplasia (ED) syndrome

Authors

Affiliations

Abstract

Figures

References

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