Hypohidrotic ectodermal dysplasia in a female patient: a case report
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Abstract
INTRODUCTION: Hypohydrotic or anhydrotic ectodermal dysplasia (DEHA) is a genodermatosis, of the eponymous Christ-Siemens-Touraine syndrome, with the development of structural and functional abnormalities of two or more ectodermal appendages. OBJECTIVE: To report a rare clinical case of hypohidrotic
ectodermal dysplasia (DEH), an X-linked inheritance disease, in a female child. CASE DESCRIPTION: The female patient was born premature, with mild delays in neuropsychomotor development related to complications in the neonatal period, presenting syndromic facies, thinning of hair and sex and heat intolerance.
DISCUSSION: DEHA is a rare genodermatosis and the clinical triad of hypotrichosis, anomalous dentition and hypohidrosis closes the diagnosis of the aforementioned patient for DEHA, which is important for the knowledge of the general pediatrician.
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References
1. Ferreira CS, Ferreira RAMH, Fernandes MLMF, Branco KMGR, Arantes RR, Leão LL. Displasia ectodérmica: relato de caso. Arq Odontol. 2012; 48(1):47-52.
2. Azulay RD. Dermatologia. 6ª ed. Rio de Janeiro: Guanabara Koogan; 2015.
3. Succi IB, Fontenelle E. Caso para diagnóstico. Displasia ectodérmica: síndrome de Christ-Siemens-Touraine. Na Bras Dermatol. 2009; 84(2):194-196.
4. Coskun Y, Bayraktaroglu Z. Pathological case ofthemonth. Archives of Pediatrics and Adolescent Medicine. 1997; 151(7):741-742.
5. Sarmento VA, et al. Displasia ectodérmica: revisão da literatura e relato de casos clínicos. Sitientibus. 2006; (34):87-100.
6. Lamartine J. Toward a new classificationofectodermaldysplasias. Clinical and Experimental Dermatology. 2003; 28:351-355.
7. Priolo M, Silengo M, Lerone M, Ravazzolo R. Ectodermal Dysplasias: Notonlya 'skin' deep. Clinical Genetics. 2000; 58(6):415-430.
8. Freire-Maia N, Pinheira M. Ectodermal dysplasias: a clinical and genetic study. American Journal of Medical Genetics. 1984; 28(4):1025-1026.
9. Bakri H. Clinical management ofectodermaldysplasia. Journal of Clinical Pediatric Dentistry. 1995; 19(3):167-172.
10. Murdoch-Kinch C, Miles DA, Poon CK. Hypodontia and Nail Dysplasia Syndrome: Report of a Case. Oral Surgery, Oral Medicine, Oral Pathology. 1993; 75(3):403-406.
11. Gun NY, et al. Mutation in the ED1 Gene, Ala349Thr, in a Korean Patient with X-linked hypohidrotic ectodermal dysplasia. Pediatric Dermatology. 2004; 21(5):568-572.
12. Garcia JG, Ruiz GH, Borges FM. Manifestaciones ORL de la displasia ectodérmica hipo-hidrótica. Arquivos Internacionais de Otorrinolaringologia. 2005; 55:1-6.
13. Koerner HN, Bettega S, Mocellin M. Rinite atrófica: relato de caso associado a displasia ectodérmica. Arquivos Internacionais de Otorrinolaringologia. 2006; 10:1-6.
14. Paller AS. Hereditary disease of skin, hair, nails, and skin structure: In: Maldonado L, Parish B, eds. Pediatric dermatology. 1989; 85.