Tus mob nevoid basal cell carcinoma syndrome

Nevoid basal cell carcinoma syndrome yog ib pawg ntawm cov tsis xws luag dhau los ntawm cov tsev neeg. Qhov kev cuam tshuam no cuam tshuam rau daim tawv nqaij, lub paj hlwb, qhov muag, cov qog endocrine, kab mob txeeb zig thiab kev ua me nyuam, thiab pob txha.

Nws ua rau muaj qhov ntsej muag txawv txawv thiab muaj kev pheej hmoo ntau dua rau cov qog tawv nqaij thiab tawv nqaij qog neeg.

Nevoid basal cell carcinoma nevus syndrome yog ib hom mob uas tsis tshua muaj tshwm sim. Cov gene loj uas txuas rau tus mob yog hu ua PTCH ("patched"). Lub noob ntxiv ob, hu ua SUFU, kuj tau hais txog tus mob no.

Cov kev txawv txav hauv cov noob no feem ntau dhau los ntawm cov tsev neeg raws li kev muaj tus kab mob autosomal tseem ceeb. Qhov no txhais tau tias koj txhim kho cov leeg mob yog tias ob leeg niam txiv kis tus gene mus rau koj. Nws tseem muaj peev xwm los tsim tus keeb xeeb no tsis nrog tsev neeg keeb kwm.

Cov tsos mob tseem ceeb ntawm qhov kev cuam tshuam no yog:

• Ib hom mob cancer ntawm daim tawv nqaij hu ua basal cell carcinoma uas nthuav dav ib puag ncig lub sijhawm
• Lub qog ua haujlwm noncancerous ntawm lub puab tsaig, hu ua kerotocystic odontogenic qog uas tseem tuaj yeem loj hlob thaum lub sij hawm tiav nkauj tiav nraug.

Lwm cov tsos mob muaj xws li:

• Dav qhov ntswg
• Ciaj xim ntawm lub palate
• Hnyav, tawm tsam ntsej muag
• Lub puab tsaig uas tau dai tawm (qee kis)
• Kev tsim qhov muag dav
• Paws rau xib teg thiab cov tes taw

Tus mob yuav cuam tshuam rau cov leeg hlwb thiab ua rau:

• Teeb meem qhov muag
• Cov lag ntseg
• Kev txawj ntse
• Qaug dab peg
• Cov qog ntawm lub paj hlwb

Tus mob tseem ua rau cov pob txha tsis zoo, suav nrog:

• Curvature ntawm nraub qaum (scoliosis)
• Mob hnyav hnyav rau sab nraub qaum (kyphosis)
• Txhaum plaub tav

Tej zaum muaj keeb kwm tsev neeg ntawm qhov kev tsis zoo no thiab keeb kwm yav dhau los ntawm cov nqaij tawv nqaij basal cell.

Cov kev kuaj yuav qhia:

• Lub hlwb hlav
• Cov hlwv hauv lub puab tsaig, uas tuaj yeem ua rau txhawm rau txhim kho hniav txawv lossis lub puab tsaig lossis pob txha lov
• Kev tsis zoo hauv cov ntu xim (iris) lossis lub lens ntawm lub qhov muag
• Lub taub hau o vim cov kua hauv lub hlwb (hydrocephalus)
• Caj tsis zoo

Kev ntsuam xyuas uas yuav ua tau muaj xws li:

• Echocardiogram ntawm lub plawv
• Kev tshuaj ntsuam genetic (nyob rau qee tus neeg mob)
• MRI ntawm lub paj hlwb
• Daim tawv nqaij hlav me ntawm cov qog
• Xoo hluav taws xob xoo pob txha, hniav, thiab pob txha taub hau
• Ultrasound los saib xyuas cov qog ntawm zes qe menyuam

Nws yog ib qho tseem ceeb yuav tsum tau kuaj xyuas los ntawm tus kws kho mob tawv nqaij (kws kho qhov tawv nqaij) ntau zaus, yog li kev kho mob nqaij tawv nqaij yuav raug kho thaum lawv tseem me.

Cov neeg muaj qhov tsis zoo no kuj tuaj yeem pom thiab kho los ntawm lwm tus kws tshaj lij, nyob ntawm seb ib qho twg ntawm lub cev tau cuam tshuam. Piv txwv li, tus kws kho mob qog nqaij hlav (oncologist) tuaj yeem kho cov qog ntshav hauv lub cev, thiab tus kws phais neeg mob pob qij txha tuaj yeem pab kho cov teeb meem pob txha.

Kev rov qab ua ntu zus nrog ntau tus kws kho mob tshwj xeeb yog qhov tseem ceeb kom tau txais txiaj ntsig zoo.

Cov neeg muaj tus mob no yuav pib loj tuaj:

• Dig muag
• Mob hlav
• Cov lag ntseg
• Puas taus
• Kheesxaws ntawm cov qog
• Mob fibromas
• Daim tawv nqaij muaj kev puas tsuaj thiab mob hnyav heev vim qhov mob qog nqaij hlav

Hu rau koj tus kws kho mob kom teem sijhawm yog tias:

• Koj lossis ib tug neeg hauv tsev neeg muaj mob nevoid basal cell carcinoma syndrome, tshwj xeeb yog tias koj tab tom npaj yuav muaj menyuam.
• Koj muaj menyuam yaus uas muaj qhov tshwm sim tsis zoo no.

Cov khub niam txiv uas muaj keeb kwm tsev neeg ntawm tus mob no yuav xav txog kev sib tham tawm tswv yim ua ntej xeeb tub.

Kev tiv thaiv tshav ntuj thiab siv tshuaj pleev thaiv hnub tuaj yeem pab tiv thaiv cov tawv nqaij qog nqaij tawv tshiab.

Zam kev ntsuas hluav taws xob xws li xoo hluav taws xob. Cov neeg uas muaj tus mob no yog rhiab heev rau tawg. Raug rau hluav taws xob tuaj yeem ua rau tawv nqaij tawv.

Cov Kev Mob NBCC; Gorlin syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome (BCNS); Basal cell mob cancer - nevoid basal cell carcinoma syndrome

• Basal cell nevus syndrome - ze xibtes
• Basal cell nevus syndrome - cov noob ntoo
• Basal cell nevus syndrome - ntsej muag thiab tes
• Basal cell nevus mob
• Basal cell nevus syndrome - ntsej muag

Hirner JP, Martin KL. Cov qog ntawm daim tawv nqaij. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 690.

Skelsey MK, Peck GL. Tus mob nevoid basal cell carcinoma syndrome. Hauv: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, eds. Kev Kho Mob Ntawm Cov tawv nqaij: Cov Tshuaj Txhuam Kho Kom Zoo. Thib 5 ed. Philadelphia, PA: Elsevier; 2018: chap 170.

Walsh MF, Cadoo K, Salo-Mullen EE, Dubard-Gault M, Stadler ZK, Offit K. Kev tshuaj ntsuam kab mob hauv lub cev: mob qog nqaij hlav mob ntshav siab mob ntshav siab. Hauv: Niederhuber JE, Armitage JO, Kastan MB, Doroshow JH, Tepper JE, eds. Abeloff's Clinical Oncology. 6 tus ed. Philadelphia, PA: Elsevier; 2020: cha 13.