I-Nevoid basal cell carcinoma syndrome

I-Nevoid basal cell carcinoma syndrome iyiqembu lamaphutha adluliswa emindenini. Lesi sifo sihilela isikhumba, isimiso sezinzwa, amehlo, izindlala ze-endocrine, izinhlelo zokuchama nokuzala, namathambo.

Kubangela ukubukeka kobuso okungajwayelekile kanye nengozi enkulu yomdlavuza wesikhumba kanye nezimila ezingenalo umdlavuza.

I-Nevoid basal cell carcinoma nevus syndrome yisimo esingavamile sezakhi zofuzo. Isakhi sofuzo esiyinhloko esixhunyaniswe ne-syndrome saziwa njenge-PTCH ("esinezimagqabhagqabha"). Isakhi sofuzo sesibili, esibizwa nge-SUFU, naso sihlotshaniswa nalesi simo.

Ukungajwayelekile kulezi zofuzo kuvame ukudluliselwa emindenini njengesici esivelele se-autosomal. Lokhu kusho ukuthi uthuthukisa lesi sifo uma ngabe omunye umzali edlulisa isakhi sofuzo kuwe. Kungenzeka futhi ukuthuthukisa le nkinga yofuzo ngaphandle komlando womndeni.

Izimpawu eziyinhloko zalesi sifo yilezi:

• Uhlobo lomdlavuza wesikhumba obizwa nge-basal cell carcinoma okhula ngesikhathi sokuthomba
• Isigaxa somhlathi esingabangeli umdlavuza, esibizwa ngokuthi isimila se-kerotocystic odontogenic esibuye sikhule ngesikhathi sokuthomba

Ezinye izimpawu zifaka:

• Ikhala elibanzi
• Ulwanga oluhlanzekile
• Isisindo, esiphumelayo
• Umhlathi ophuma ngaphandle (kwezinye izimo)
• Amehlo asethwe kabanzi
• Pitting ezintendeni zamatende naphansi

Isimo singathinta uhlelo lwezinzwa futhi siholele ku:

• Izinkinga zamehlo
• Izithulu
• Ukukhubazeka kwengqondo
• Ukuquleka
• Izimila zobuchopho

Isimo futhi siholela ekulimaleni kwamathambo, kufaka phakathi:

• Ukugoba emuva (i-scoliosis)
• Ukugoba okunzima emuva (kyphosis)
• Izimbambo ezingavamile

Kungaba nomlando womndeni walesi sifo nomlando owedlule womdlavuza wesikhumba samaseli wesisekelo.

Izivivinyo zingaveza:

• Izicubu zobuchopho
• Ama-cysts emhlathini, angaholela ekukhuleni okungavamile kwezinyo noma ekuqhekekeni komhlathi
• Amaphutha engxenyeni enemibala (iris) noma i-lens yeso
• Ukuvuvukala kwekhanda ngenxa yoketshezi ebuchosheni (i-hydrocephalus)
• Ukungajwayelekile kobambo

Ukuhlolwa okungenziwa kufaka phakathi:

• I-Echocardiogram yenhliziyo
• Ukuhlolwa kofuzo (kwezinye iziguli)
• I-MRI yobuchopho
• Isikhumba se-biopsy samathumba
• Ama-X-ray amathambo, amazinyo, nogebhezi
• I-Ultrasound yokuhlola izicubu ze-ovari

Kubalulekile ukuthi uhlolwe udokotela wesikhumba (i-dermatologist) kaningi, ukuze umdlavuza wesikhumba ukwazi ukwelashwa usemncane.

Abantu abanalesi sifo bangabonakala futhi belashwe abanye ochwepheshe, kuya ngokuthi iyiphi ingxenye yomzimba ethintekile. Isibonelo, isazi somdlavuza (i-oncologist) singaphatha izicubu emzimbeni, futhi udokotela ohlinzayo wamathambo angasiza ekwelapheni izinkinga zamathambo.

Ukulandelwa njalo kodokotela abahlukahlukene abangochwepheshe kubalulekile ukuze ube nomphumela omuhle.

Abantu abanalesi simo bangathuthuka:

• Ubumpumputhe
• Isigaxa sobuchopho
• Izithulu
• Izintanda
• Izimila ze-ovari
• Ama-fibromas enhliziyo
• Ukulimala kwesikhumba kanye nokuqhuma okukhulu ngenxa yomdlavuza wesikhumba

Thintana nomhlinzeki wakho wezokunakekelwa kwempilo ukuze ubonane nesikhathi:

• Wena noma amanye amalungu omndeni une-nevoid basal cell carcinoma syndrome, ikakhulukazi uma uhlela ukuba nengane.
• Unengane enezimpawu zalesi sifo.

Imibhangqwana enomlando womndeni walesi sifo ingabheka ukwelulekwa ngezakhi zofuzo ngaphambi kokukhulelwa.

Ukuhlala ngaphandle elangeni nokusebenzisa i-sunscreen kungasiza ukuvikela umdlavuza omusha wesikhumba samaseli.

Gwema imisebe efana ne-x-ray. Abantu abanalesi simo bazwela kakhulu emisebeni. Ukuchayeka emisebeni kungaholela emdlavuzeni wesikhumba.

Isifo se-NBCC; Isifo se-Gorlin; Isifo se-Gorlin-Goltz; I-Basal cell nevus syndrome (BCNS); Umdlavuza we-basal cell - nevoid basal cell carcinoma syndrome

• I-basal cell nevus syndrome - ukuvala kwesundu
• I-basal cell nevus syndrome - imigodi yezitshalo
• I-basal cell nevus syndrome - ubuso nesandla
• I-basal cell nevus syndrome
• I-basal cell nevus syndrome - ubuso

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USkelesey MK, uPeck GL. I-Nevoid basal cell carcinoma syndrome. Ku: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, abahleli. Ukwelashwa Kwezifo Zesikhumba: Amasu Wokwelashwa Okuphelele. Umhlaka 5. IPhiladelphia, PA: Elsevier; 2018: isahluko 170.

UWalsh MF, uCadoo K, uSalo-Mullen EE, uDubard-Gault M, uStadler ZK, u-Offit K. Izici zofuzo: umdlavuza oyifa. Ku: Niederhuber JE, Armitage JO, Kastan MB, Doroshow JH, Tepper JE, abahleli. I-Abeloff’s Clinical Oncology. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2020: isahluko 13.