Noonan syndrome ma tele lentigines

Noonan syndrome ma le tele o lentigines (NSML) o se matua seasea maua faʻamaʻi. O tagata e maua i lenei maʻi e i ai faʻafitauli i le paʻu, ulu ma foliga, taliga i totonu, ma le fatu. Atonu e aʻafia foʻi itotoʻa.

Noonan syndrome sa lauiloa o le LEOPARD syndrome.

NSLM o loʻo tuʻufaʻatasia o se uiga taʻutaʻua autosomal. Lona uiga e naʻo le tagata na te manaʻomia le kenera masani mai le tasi matua ina ia mafai ai ona mautofi ile faʻamaʻi.

O le igoa muamua o le NSML o LEOPARD o loʻo tu ai mo eseʻese faʻafitauli (faʻailoga ma faʻailoga) o lenei faʻamaʻi:

• Lentigines - lapoʻa numera o enaena pe uliuli o le paʻu e pei o faʻailoga o le paʻu e masani ona aʻafia ai le ua ma luga pusa ae mafai ona aliali mai luga o le tino atoa
• E le masani ai le faʻamamaina o le eletise - faʻafitauli i le eletise ma pamuina galuega a le fatu
• Oicular hypertelorism - o mata e feoaʻi lautele lautele
• Paʻu alatoto stenosis– faʻaitiitiina o le alatoto o le fatu mama, mafua ai le itiiti ifo o le toto tafe i le mama ma mafua ai puʻupuʻu manava
• Abnormalities o le itutinosa - pei o undescended testicle
• Retardation o le tuputupu ae (tuai tuai tuputupu ae) - aofia ai ponaivi tuputupu aʻe faʻafitauli o le fatafata ma tuasivi
• DEafness - faʻalogo leiloa ono fesuisuiaʻi i le va agamalu ma ogaoga

NSML e tai tutusa ma le Noonan syndrome. Peitaʻi, o le faʻailoga iloga na teʻi tuʻu eseʻese tulaga ia e lua, o tagata e iai le NSML e iai lentigine.

O le soifua maloloina tausi soifua maloloina o le a faia se faʻataʻitaʻiga tino ma faʻalogo i le fatu ma se stethoscope.

O suʻega e mafai ona faia e aofia ai:

• ECG ma echocardiogram e siaki le fatu
• Suʻega ole faʻafofoga
• CT faʻataʻitaʻi le faiʻai
• Ulupoo x-ray
• EEG e siaki le faiai o le faiʻai
• Toto suʻega e siaki ai nisi tulaga o le homone
• Aveʻese se laʻititi aofaʻi o paʻu mo suʻesuʻega (paʻu o le tino)

O faʻailoga e togafitia pe a talafeagai ai. Atonu e manaʻomia se fesoasoani. Hormone togafitiga atonu e manaʻomia i le taimi fuafuaina o le laititi e mafua ai le masani suiga e tupu.

Leisa, cryosurgery ('aisa), poʻo le pupula kulimi e ono fesoasoani e faʻamamaina nisi o lanu enaena i luga o le paʻu.

O nei fesoasoani e mafai ona maua ai nisi faʻamatalaga ile LEOPARD syndrome:

• National Organization for Rare Disorder - rarediseases.org/rare-diseases/leopard-syndrome
• NIH Genetics Fale Faʻasino Tusi - ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

Faʻafitauli eseese ma aofia ai:

• Tutuli
• Toloai talavou
• Faʻafitauli o le fatu
• Le fanau

Valaʻau lau tautua pe a iai ni faʻailoga o lenei faʻamaʻi.

Valaʻau mo sau appointment ma lau tautua pe a iai sau talaʻaga aiga o lenei faʻamaʻi ma fuafua e fai sau fanau.

Ole fautuaga faʻapitoa e fautuaina mo tagata e iai le talafaʻasolopito ole aiga o NSLM o loʻo mananaʻo e fai ni a latou fanau.

Tele lentigines syndrome; LEOPARD faʻamaʻi; NSML

James WD, Elston DM, Togafitiga JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi ma neoplasms. I totonu: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews 'Faamaʻi o le Paʻu. 13th lomiga. Filatelefia, PA: Elsevier; 2020: chap 30.

Paller AS, Mancini AJ. Faʻaletonu o pigmentation. I: Paller AS, Mancini AJ, eds. Hurwitz Togafitiga Pediatric Dermatology. 5th ed. Filatelefia, PA: Elsevier; 2016: mata 11.