Naslov
Ectodermal dysplasia - a family report

Autori
Brbora, Ivona ; Gabrić Pandurić, Dragana ; Gabrić, Katica ; Žeko, Ivo ; Mišković, Silvana ; Čulić, Vida

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Final program and abstracts: the seventh ISABS conference in forensic, anthropologic and medical genetics and Mayo clinic lectures in translational medicine / Primorac, Dragan - Zagreb, 2011, 283-283

Skup
The seventh ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic lectures in Translational Medicine: Fifth Croatian Human Genetics Conference

Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 24.06.2011

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
ectodermal dysplasia; genetics; dentistry; DNA analysis; clinics

Sažetak
Ectodermal dysplasias (ED) are a heterogeneous group of genetically and heterogenous conditions that are characterized by abnormal development of ectodermal structures. The most affected structures are teeth, skin and its derivatives (hair, sweat glands) along with other ectodermal structures. The purpose of this work was to present the family with 3 boys affected with ED. We described the clinical report of male infant (sick twin) aged two months and his brothers with absence of eyebrows and eyelashes, saddle nose, dry flaky skin, rare thin blond hair, and large number of dental anomalies with pathohistological-skin positive analysis for ectodermal dysplasia. Oligodontia in the primary dentition in the case of two older brothers, as well as severe oligodontia in the permanent dentition was observed. Only a few abnormally formed teeth erupted (microdontia and conical teeth), and at the later then average age. Radiographic examination confirmed previous clinical findings and determined taurodontism of the molar teeth. Pseudoprognathisam of the mandible due to micrognathisam of the maxilla was also observed. Based on the positive familly history (two older brothers), clinical picture and pathohistological findings of the skin we concluded that the child was also affected with ED. We are still not able to do a gene test for this family, we have grown skin fibroblasts and isolated and frozen samples for DNA analysis for EDA gene, EDAR gene EDARADD form of ectodermal dysplasia, but also NEMO gene.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Dentalna medicina

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