ʻO ka nevoid basal cell carcinoma syndrome

ʻO ka nevoid basal cell carcinoma syndrome kahi hui o nā kīnā i ili ʻia i waena o nā ʻohana. Hoʻopili ka maʻi i ka ʻili, ʻōnaehana, maka, endocrine glands, urinary and reproductive ʻōnaehana, a me nā iwi.

Kuhi ia i kahi helehelena ʻano ʻē a me ka nui o ka makaʻu no nā maʻi ʻaʻai ʻili a me nā hikoko ʻole noncancerous.

ʻO Nevoid basal cell carcinoma nevus syndrome kahi ʻano laha ʻole. ʻO ka moʻo nui e pili ana i ka maʻi e ʻike ʻia ʻo PTCH ("patched"). Ua pili pū kekahi ʻano ʻelua, i kapa ʻia ʻo SUFU, me kēia ʻano.

ʻO nā mea maʻamau ʻole i kēia mau ʻāpana e hoʻoili pinepine ʻia i waena o nā ʻohana ma ke ʻano he mana autosomal. ʻO kēia ke hoʻomohala i ka maʻi inā hele kekahi makua i ka ʻāpana iā ʻoe. Hiki nō hoʻi ke hoʻomohala i kēia kīnā kīnā me ka ʻole o ka mōʻaukala ʻohana.

ʻO nā ʻōuli nui o kēia maʻi ʻo:

• ʻO kekahi ʻano ʻino o ka ʻili i kapa ʻia he carcinoma basal cell e ulu a puni ka wā ʻōpio
• ʻO kahi tumo noncancerous o ka iwi ā, i kapa ʻia he tumotocystic odontogenic tumo e ulu pū ana i ka wā ʻōpio.

ʻO nā ʻōuli ʻē aʻe e like me:

• Ihu ākea
• Pāpā palu
• Kahi kaumaha, kūkae ke alo
• Pāleʻa e kīloi ana (i kekahi mau hihia)
• Maka maka ākea
• ʻO ke kau ʻana ma nā pāma a me nā kapuaʻi

Hoʻopilikia ke ʻano i ka ʻōnaehana hopohopo a alakaʻi i:

• Nā pilikia maka
• Kuli ke kuli
• Kīnā ʻole o ka noʻonoʻo
• Ka hopu ʻana i nā maʻi
• Nā Tumors o ka lolo

ʻO ke ʻano ke alakaʻi i nā hemahema iwi, me:

• Ka piko o ke kua (scoliosis)
• ʻO ka curvature nui o ke kua (kyphosis)
• Nā iwi ʻaoʻao maʻamau

Aia paha he moʻolelo ʻohana o kēia maʻi a me ka mōʻaukala i hala o nā maʻi ʻili basal cell.

Hōʻike ʻia nā hoʻokolohua:

• ʻOrspala lolo
• Hiki i nā cist i ka iwi ā, hiki ke alakaʻi i ka ulu ʻana o ka niho a i ʻole nā ​​iwi āpau
• Nā kīnā i ka ʻāpana kala (iris) a i ʻole nā ​​aniani o ka maka
• Pahu ke poʻo ma muli o ka wai i ka lolo (hydrocephalus)
• Rib abnormalities

ʻO nā hoʻāʻo e hana ʻia ana paha:

• Echocardiogram o ka puʻuwai
• Ke hoʻāʻo genetic (i kekahi mau maʻi)
• MRI o ka lolo
• ʻIli biopsy o nā tumors
• X-kukuna o nā iwi, nā niho, a me ka iwi poʻo
• ʻO ke ultrasound e nānā ai no nā tumora ovarian

He mea nui e nānā ʻia e ke kauka ʻili (dermatologist) pinepine, i hiki ai ke mālama ʻia i nā maʻi ʻili ʻoiai lākou e liʻiliʻi ana.

E ʻike ʻia a mālama ʻia paha ka poʻe me kēia maʻi e nā loea ʻē aʻe, kaukaʻi ʻia i ka ʻāpana o ke kino e hoʻopili ʻia. ʻO kahi laʻana, hiki i kahi loea o ka maʻi ʻaʻai (oncologist) ke mālama i nā tumors i loko o ke kino, a hiki i kahi kaukō lapaʻau orthopedic ke kōkua i ka mālama ʻana i nā pilikia iwi.

ʻO ka ukali pinepine me nā kauka loea he mea nui ia no ka hopena maikaʻi.

Hiki i nā poʻe me kēia ʻano ke hoʻomohala:

• Makapō
• Tumo lolo
• Kuli ke kuli
• Nā haki
• ʻO nā kūpuna ʻo Ovarian
• Cardiac fibromas
• ʻO ka ʻeha o ka ʻili a me ka scarring koʻikoʻi ma muli o nā maʻi ʻili ʻili

E kāhea aku i kāu kahu mālama ola no kahi manawa inā:

• ʻO ʻoe a i ʻole kekahi ʻohana i loaʻa i ka nevoid basal cell carcinoma syndrome, keu hoʻi inā e hoʻolālā ana ʻoe i kahi keiki.
• He keiki kāu i loaʻa nā ʻōuli o kēia maʻi.

Hiki paha i nā kāne me ka moʻolelo ʻohana o kēia maʻi ke noʻonoʻo i nā ʻōlelo aʻo kūpuna ma mua o ka hāpai ʻana.

ʻO ka noho ʻana i waho o ka lā a me ka hoʻohana ʻana i ka sunscreen hiki ke kōkua i ka pale ʻana i nā maʻi ʻili o ka ʻili basal hou.

Pale i ka pāhawewe e like me nā kukuna x. ʻO ka poʻe me kēia ʻano maʻalahi loa i ka radiation. Hiki i ka hōʻike ʻana i ka pāhawewe ke alakaʻi i nā maʻi ʻaʻai ʻili.

NBCC maʻi; Maʻi maʻi ʻo Gorlin; Maʻi maʻi Gorlin-Goltz; Basal cell nevus syndrome (BCNS); Ka maʻi ʻaʻai basal - nevoid basal cell carcinoma syndrome

• Basal cell nevus syndrome - pili loa o ka pāma
• Basal cell nevus syndrome - nā lua plantar
• Basal cell nevus syndrome - ke alo a me ka lima
• Basal cell nevus maʻi maʻi
• Basal cell nevus syndrome - helehelena

ʻO Hirner JP, Martin KL. Nā Tumors o ka ʻili. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 690.

ʻO Skelsey MK, Peck GL. ʻO ka nevoid basal cell carcinoma syndrome. I: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, eds. Ka mālama ʻana i ka maʻi ʻili: nā ʻōnaehana Therapyutic Comprehensive. 5th lā. Piladelapia, PA: Elsevier; 2018: chap 170.

ʻO Walsh MF, ʻo Cadoo K, ʻo Salo-Mullen EE, ʻo Dubard-Gault M, ʻo Stadler ZK, ʻo Offit K. Nā mea kūlohelohe: nā maʻi maʻi predisposition cancer I: Niederhuber JE, Armitage JO, Kastan MB, Doroshow JH, Tepper JE, eds. ʻO Oncology Clinical ʻo Abboff. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2020: chap 13.