2013, Number 5
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Med Cutan Iber Lat Am 2013; 41 (5)
Ectodermal dysplasia: four cases report
Reis SC, Tadeu VR, Bedin V
Language: Portugués
References: 14
Page: 231-235
PDF size: 682.63 Kb.
ABSTRACT
Ectodermal dysplasia (ED) is a group of diseases characterized by abnormalities in structures of ectodermal origin. Clinically, changes are observed in
hair, nails, sweat glands and teeth. There are different proposals for classification, considering clinical and, currently, the molecular bases of genetic
mutations. The base of treatment is genetic counseling and palliative measures. Four cases of ectodermal dysplasia with different clinical presentation
are described and followed by a brief review about this subject.
REFERENCES
Freire-Maia N. Displasias ectodérmicas: aspectos embriológicos, clínicos, nosológicos, moleculares e genéticos. Centro de Estudos de Displasias Ectodérmicas, UFPR, Curitiba, 2002, 1ª edição, pp. 06-17.
Ruschel HC, Leopoldo RC, Cruz FF, Faraco Junior IM. Displasia ectodérmica de baixa expressividade - relato de caso. RFO 2008; 13: 66-72.
Akhyani M, Kiavash K. Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness. Indian J Dermatol Venereol Leprol 2007; 73: 409-11.
Micali G, Cook B, Blekys I, Solomon LM. Structural hair abnormalities in ectodermal dysplasia. Pediatr Dermatol 1990: 7: 27-32.
Kirtley GE. Restoring Esthetics and Function in an Edentulous Patient with Ectodermal Dysplasia. Compend Contin Educ Dent 2011; 32: 82-4.
Trope BM, Costa VDT, Barros DS, Salomão JN, Villa Verde RB. Você conhece esta síndrome? An Bras Dermatol 2010; 85: 573-5.
Succi IB, Fontenelle E. Caso para diagnostico. An Bras Dermatol 2009; 84: 194-6.
Caye L, Scheid K, Dal Pizzol MM, Freda R. Uso do bevacizumab (Avastin®) na síndrome KID: relato de caso. Arq Bras Oftalmol 2010; 73: 285-7.
Almeida SFF, Solari HP. Displasia ectodérmica, ectrodactilia e fissura lábio-palatal: manifestações oculares da síndrome em relato de caso. Arq Bras Oftalmol 2007; 70: 125-8.
Sato MT, Marzagão R, Pagnan NAB, Freire- Maia N, Moreira Junior CA. Distrofia retiniana com onda rápida escotópica (DRORE) associada à síndrome dos cabelos anágenos frouxos (SCAF). Parte II: Genética. Arq Bras Oftalmol 2004; 67: 621-30.
Wright JT, Morris C, Clements SE, D’Souza R, Gaide O, Mikkola M, Zonana J. Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways. Am J Med Genet A 2009; 149A: 2062-7.
Itin PH. Rationale and background as basis for a new classification of the ectodermal dysplasias. Am J Med Genet A 2009; 149A: 1973-6.
Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A 2009; 149A: 1980-2002.
Salinas CF, Jorgenson RJ, Wright JT, DiGiovanna JJ, Fete MD. 2008 International Conference on Ectodermal Dysplasias Classification: Conference report. Am J Med Genet A 2009; 149A: 1958-69.