Abstract
ABSTRACTIntroduction: Ectodermal dysplasia (ED) is a rare genetic disorder characterized by defect in two or more ectodermal structures such as teeth, hair, nails and sweat glands. Ectodermal dysplasia divided into 2 types, which is hidrotic and hypohidrotic. The hypohidrotic type was found in 80% of cases. There is no specific treatment for this disorder, which is more of a symptomatic measures depends on the structure involved.Case: A 1 year old male, Balinese, consulted from Department of Pediatrics to Department of Dermatovenereology with the chief complaint of dry skin, absence of sweat, teeth, scalp hair and eyebrow since birth. Recurrent fever present especially in hot climates. No growth abnormalities. No history of incest between parents. His grandfather also complained about the same symptoms, which are sparse hair and decreased sweating. General examination revealed frontal bossing, saddle nose, prominent chin and anodontia. Dermatologic examination revealed multiple hypopigmented macules, well defined margin, oval-round shaped, size ø 0,5-1 cm, distributed over entire skin and anhidrosis. Department of Dermatovenereology gives moisturizer every 12 hours topically. Department of Pediatrics gives zinc tablets, 20 mg every 24 hours orally.Conclusion:The diagnosis of ED was mainly clinical. Treatment is symptomatic and effective education is needed to increase patient's quality of life. Early fetal detection can be performed if there is a risk in the family. Currently, there is a team joined under SIDIC program in Sanglah Hospital whose main purpose is to detect and prevent congenital disorders early.
Highlights
a rare genetic disorder characterized by defect
Ectodermal dysplasia divided into 2 types
hypohidrotic. The hypohidrotic type was found in 80% of cases
Summary
Latar Belakang: Displasia ektodermal (DE) merupakan suatu kelainan herediter yang jarang didapatkan dan ditandai dengan adanya defek dari dua atau lebih struktur ektodermal seperti gigi, rambut, kelenjar keringat dan kuku. Terdapat keluhan serupa pada kakek pasien berupa rambut dan keringat yang jarang. Displasia ektodermal disebabkan oleh adanya mutasi atau delesi gen tertentu pada suatu kromosom dan dapat diturunkan secara autosomal dominan, autosomal resesif maupun X-linked.[3] Tipe hidrotik diturunkan secara autosomal dominan, sedangkan tipe hipohidrotik terutama diturunkan secara X linked. DE tipe hipohidrotik terutama ditandai oleh hipodontia atau anodontia (tidak tumbuhnya gigi), hipotrikosis (pertumbuhan rambut yang jarang) dan hipohidrosis (berkurangnya produksi keringat).[1,4]. Pada status generalis didapatkan kepala normosefali, frontal bossing, saddle nose, dagu yang tampak lancip, pertumbuhan rambut jarang, dan pada kedua mata tidak ditemukan tanda anemia dan ikterus (Gambar 1). Pasien rencana dikonsulkan ke bagian ilmu kesehatan gigi dan mulut untuk penatalaksanaan anodontia
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