Ama-dysplasias e-Ectodermal

I-Ectodermal dysplasias yiqembu lezimo lapho kunokuthuthuka okungajwayelekile kwesikhumba, izinwele, izinzipho, amazinyo, noma izindlala zomjuluko.

Kunezinhlobo eziningi ezahlukahlukene ze-ectodermal dysplasias. Uhlobo ngalunye lwe-dysplasia lubangelwa ukuguqulwa okuthile kwezakhi zofuzo ezithile. I-Dysplasia isho ukukhula okungajwayelekile kwamaseli noma izicubu. Uhlobo oluvame kakhulu lwe-ectodermal dysplasia luvame ukuthinta abesilisa. Ezinye izinhlobo zalesi sifo zithinta abesilisa nabesifazane ngokulinganayo.

Abantu abane-ectodermal dysplasia kungenzeka bangajuluki noma bajuluke ngaphansi kokujwayelekile ngenxa yokushoda kwezindlala zomjuluko.

Ezinganeni ezinesifo, imizimba yazo ingaba nenkinga yokulawula imikhuhlane. Ngisho nokugula okuncane kungakhipha umkhuhlane omkhulu ngokweqile, ngoba isikhumba asikwazi ukujuluka nokulawula izinga lokushisa kahle.

Abantu abadala abathintekile abakwazi ukubekezelela indawo efudumele futhi badinga izinyathelo, ezinjenge-air conditioning, ukugcina izinga lokushisa lomzimba elijwayelekile.

Ngokuya ngokuthi iziphi izakhi zofuzo ezithintekayo, ezinye izimpawu zingafaka:

• Izipikili ezingavamile
• Amazinyo angajwayelekile noma alahlekile, noma angaphansi kwenani elijwayelekile lamazinyo
• I-Cleft lip
• Umbala wesikhumba owehlisiwe (i-pigment)
• Isiphongo esikhulu
• Ibhuloho elingaphansi lamakhala
• Izinwele ezizacile, ezincanyana
• Ukukhubazeka kokufunda
• Ukungezwa kahle
• Ukungaboni kahle ngokuncipha kokukhiqiza izinyembezi
• Amasosha omzimba abuthakathaka

Ukuhlolwa okungenziwa kufaka phakathi:

• I-biopsy yolwelwesi lwamafinyila
• I-biopsy yesikhumba
• Ukuhlolwa kofuzo (kuyatholakala kwezinye izinhlobo zalesi sifo)
• Ama-X-ray amazinyo noma amathambo angenziwa

Akukho ukwelashwa okuqondile kwalesi sifo. Esikhundleni salokho, izimpawu ziphathwa njengoba kudingeka.

Izinto ongazenza zingafaka:

• Gqoka iwigi namazinyo okufakelwa ukuze uthuthukise ukubukeka kwakho.
• Sebenzisa izinyembezi zokufakelwa ukuvimbela ukoma kwamehlo.
• Sebenzisa i-saline nose spray ukuze ususe imfucumfucu futhi uvikele ukutheleleka.
• Thatha amanzi okugeza apholisayo noma usebenzise izifutho zamanzi ukugcina ukushisa okujwayelekile komzimba (amanzi ahwamuka esikhunjeni angena esikhundleni somsebenzi wokupholisa izithukuthuku esihwamuka esikhunjeni.)

Lezi zinsizakusebenza zinganikeza imininingwane eminingi kuma-ectodermal dysplasias:

• I-Ectodermal Dysplasia Society - edsociety.co.uk
• Isisekelo Sikazwelonke se-Ectodermal Dysplasias - www.nfed.org
• Isikhungo Sokwaziswa se-NIH Genetic and Rare Diseases - rarediseases.info.nih.gov/diseases/6317/ectodermal-dysplasia

Uma unokuhluka okuvamile kwe-ectodermal dysplasia lokhu ngeke kunciphise isikhathi sempilo yakho. Kodwa-ke, kungadingeka ukuthi unake izinguquko zokushisa nezinye izinkinga ezihambisana nalesi simo.

Uma kungalashwa, izinkinga zempilo ezikulesi simo zingafaka:

• Ukulimala kobuchopho okudalwa ukushisa komzimba okwandayo
• Ukuquleka okubangelwa umkhuhlane omkhulu (ukuqubuka okufuthayo)

Shayela i-aphoyintimenti nomhlinzeki wakho wezokunakekelwa kwezempilo uma ingane yakho ikhombisa izimpawu zalesi sifo.

Uma unomlando womndeni we-ectodermal dysplasia futhi uhlela ukuba nezingane, ukwelulekwa ngezofuzo kuyanconywa. Ezimweni eziningi, kungenzeka ukuthi kuhlolwe i-ectodermal dysplasia ngenkathi ingane isesibelethweni.

I-anhidrotic ectodermal dysplasia; I-Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti

• Izendlalelo zesikhumba

U-Abidi NY, uMartin KL. Ama-dysplasias e-Ectodermal. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 668.

UNarendran V. Isikhumba se-neonate. Ku: Martin RJ, Fanaroff AA, Walsh MC, ama-eds. UFanaroff kanye neMithi kaMartin's Neonatal-Perinatal Medicine. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 94.