Hypohidrotic Ectodermal Dysplasia

Neerupam Gupta; Shirin Nomani; Vikram Gupta; Sanjeev Kumar Digra

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Neerupam Gupta¹, Shirin Nomani², Vikram Gupta³, Sanjeev Kumar Digra⁴.

¹Sub-Distict Hospital, Ramban, Jammu & Kashmir,
²Ayush Hospital, Bhubaneswar, Orissa,
³Ascoms, Jammu, Jammu & Kashmir, India,
⁴Department Of Pediatrics, Government Medical College, Jammu, Jammu & Kashmir.

ADDRESS FOR CORRESPONDENCE
Dr. Neerupam Gupta, H.No-35,Sector-7, Trikuta Nagar, Jammu, India. Mob: +919419286878

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Keywords

Ectodermal Dysplasia, Hypohydrotic, Anodontia

We report two male sibs one 6 years and another 3 years of age from a nonconsanguineous married Hindu family. Both were admitted in department of Pediatrics, SMGS hospital, Govt Medical College, Jammu with history of high grade fever and cough of short duration with a background history of frequent rise of body temperature since early infancy. Absence of sweating even in hot summer, lack of hair and abnormal dentition were associated complaints. Family history revealed healthy parents with these two sons without history of similar illness in relatives. Clinical examination revealed thin strands of silky hair, sparse eyelash, frontal bossing, depressed nasal bridge and dry skin but normal nails in both of them. Elder brother had only two conical upper incisor teeth (Figure 1) but the younger had one. Systemic examinations revealed no abnormality except for few crackles in lungs. Skin biopsy of both the brothers showed thinned out epidermis, absence of sweat glands and pilosebacious unit in dermis suggestive of hypohidrotic (anhidrotic) Ectodermal dysplasia. Other investigations were nonconclusive. The chest infection in both of these sibs responded to appropriate antibiotics and were discharged after 15 days of hospital stay with advice to avoid high ambient temperatures as far as possible.

Figure 1: Sparse hair and eyelashes with only 2 conical incisor teeth

Figure 1: Sparse hair and eyelashes with only 2 conical incisor teeth

Ectodermal dysplasia is a heterogeneous group of disorders characterized by a constellation of findings involving defects of two or more of the following : teeth, skin, and appendageal structures including hair, nails, and eccrine and sebaceous glands. Although 170 ectodermal dysplasias have been described, the majority are rare and only 30 have been genetically defined (1). Hypohidrotic ectodermal dysplasia is also known as anhidrotic ectodermal dysplasia (EDA I) and Christ-Siemens-Touraine syndrome (2). Hypohidrotic ectodermal dysplasia was described as early as 1848 by British physician J. Thurnam (3). The incidence has been reported to be 1 per 10,000 to 1 per 100,000 live births (4). Hypohidrotic ectodermal dysplasia is manifested as a triad of defects: partial or complete absence of sweat glands, anomalous dentition and hypotrichosis. Anodontia or hypodontia with widely spaced, conical teeth is a constant feature (1). Episodes of high fever in warm environment, dry skin, sparse hypopigmented hair, frontal bossing, flattened nasal bridge are some of other features. Poor development of mucous glands in the respiratory tract may result in increased susceptibility to respiratory tract infections. Treatment of these children include protecting them from high ambient temperatures and early dental evaluation so that prostheses can be provided. Artificial tears should be used to prevent the damage to cornea. Wigs may be advised to improve appearance. (1) Both the brothers reported here had the classical triad along with other clinical features of hypohidrotic (anhidrotic) ectodermal dysplasia which was confirmed by skin biopsy. The mode of inheritance of hypohidrotic ectodermal dysplasia is X-linked recessive with full expression only in males; however, an autosomal recessive mode of inheritance may be operative in some families (1,5).

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References

Gray LD. Ectodermal Dysplasia. In: Nelson Textbook of Pediatrics. Behrman RE, Kliegman RM, Jenson HB, editors. 16th edn. W.B.Saunders Company 2000; 1974-1975.
Smagrupps Centrum - the Swedish Information Center for Rare Diseases- produced and edited this information material. Date of publication: 2005-05-03 Version: 2.1 Article number: 2002-110-10.
Priolo M, Lagana C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. 2001; 38: 579-585. [CrossRef] [PubMed]
Sepulveda W, Sandoval R, Carstens E, Gutierrez J, Vasquez P. Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography. J Ultrasound Med. 2003; 22: 731-735. [CrossRef] [PubMed]
Munoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R, Zonana J. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet. 1997; 61: 94-100. [CrossRef] [PubMed]