Volume 12, Issue 3 (12-2025)                   J Jiroft Univ Med Sci 2025, 12(3): 1960-1969 | Back to browse issues page

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Cheraghi T, Tabrizi M, Zarkesh M, Dalili S, Hoseini Nouri S A, Hasanzadeh Rad A. Ectodermal Dysplasia in Identical Twins: A Case Report and Review of the Literature. J Jiroft Univ Med Sci 2025; 12 (3) :1960-1969
URL: http://journal.jmu.ac.ir/article-1-876-en.html
1- Pediatric Disease Research Center, Guilan University of Medical Sciences, Rasht, Iran
2- Pediatric Disease Research Center, Guilan University of Medical Sciences, Rasht, Iran , dr.azadehoseini@gums.ac.ir
Abstract:   (16 Views)
Introduction: Ectodermal Dysplasia (EDs) is a rare genetic disorder characterized by impaired development of two or more ectodermal derivatives. The disease is characterized by the absence of sweat glands (hypohidrosis or anhidrosis), malformed teeth (anodontia or hypodontia), and sparse hair (atrichosis or hypotrichosis). In this article, two cases of Iranian identical twins with typical manifestations of hypohidrotic ectodermal dysplasia are presented.
Case Description: Identical male twins at the age of 30 months presented with complaints of heat intolerance and increased body temperature, and reluctance to wear clothes. The hair, eyebrows, and eyelashes were thin, sparse, and completely blond. Wrinkles and hyperpigmentation around the eyes were evident. On examination, they had anodontia of the mandibular and maxillary arches. Both patients developed scaling from one week after birth, which was diagnosed as eczema and treated with moisturizers. Cow's milk protein allergy was noted in the medical history of both twins. A history of repeated serious infections in the past 30 months was negative. Both had suffered from epistaxis in warm environments. Developmental and speech skills were normal in both twins. They were diagnosed with hypohidrotic ectodermal dysplasia after a thorough examination
Conclusion: Ectodermal dysplasia is a rare but potentially life-threatening disorder. Physicians' awareness of key symptoms, such as hypohidrosis, hypotrichosis, and hypodontia in young children, and peeling or erythroderma in the neonatal period, leads to early diagnosis, management of hyperthermic, electrolyte, and dehydration crises, and prevention of life-threatening complications. Despite the lack of a definitive cure, patients can benefit from a multidisciplinary approach for timely treatment planning.
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Type of Study: case report | Subject: Medical Sciences / Pediatrics
Received: 2025/05/18 | Accepted: 2025/08/2 | Published: 2025/12/1

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