Incontinentia pigmenti

Incontinentia pigmenti (IP) bụ ọnọdụ anụ ahụ na-adịghị ahụkebe nke sitere na ezinụlọ. Ọ na-emetụta anụahụ, ntutu, anya, ezé, na sistem ụjọ.

IP na-akpata nsogbu mkpụrụ ndụ ihe nketa nke jikọrọ X nke na-eme na mkpụrụ ndụ ihe nketa a maara dị ka IKBKG.

Ebe ọ bụ na nkwarụ mkpụrụ ndụ ihe nketa na-apụta na chromosome X, a na-ahụkarị ọnọdụ ndị nwanyị. Mgbe ọ pụtara na ụmụ nwoke, ọ na-abụkarị ihe na-egbu egbu na nwa ebu n'afọ ma na-ebute ime ọpụpụ.

Na mgbaàmà anụ ahụ, enwere usoro 4. Antsmụaka nwere IP amụrụ site na mpaghara streaky, ọnya ọjọọ. Na ogbo 2, mgbe mpaghara ndị ahụ gwọọ ha, ha na-aghọ ụsọ na-adịghị mma. N’agba nke 3, ụyọkọ ndị ahụ na-apụ, ma hapụ anụ gbara ọchịchịrị, a na-akpọ hyperpigmentation. Afọ ole na ole, anụ ahụ na-alaghachi na nkịtị. Na ogbo nke 4, enwere ike ịnwe mpaghara nke ọkụ na-acha ọkụ (hypopigmentation) nke dị njọ.

IP metụtara na Central ụjọ usoro nsogbu, gụnyere:

• Igbu oge mmepe
• Loss nke ije (ahumkponwu)
• Nkwarụ ọgụgụ isi
• Ọkpụkpụ akwara
• Ọdịdọ

Ndị nwere IP nwekwara ike nwee ezé ezighi ezi, ntutu isi, na nsogbu ọhụụ.

Onye nlekọta ahụike ga-eme nyocha anụ ahụ, lelee anya, ma nwalee mmegharị ahụ.

Enwere ike ịnwe usoro na ọnya na-adịghị ahụkebe na anụ ahụ, yana adịghị ike ọkpụkpụ. Nnyocha anya nwere ike igosi cataracts, strabismus (anya gafere), ma ọ bụ nsogbu ndị ọzọ.

Iji gosi nyocha ahụ, enwere ike ịme ule ndị a:

• Nyocha ọbara
• Skin biopsy
• CT ma ọ bụ MRI nyochaa ụbụrụ

Enweghị ọgwụgwọ a kapịrị ọnụ maka IP. A na-eji ọgwụgwọ eme ihe maka mgbaàmà ọ bụla. Dịka ọmụmaatụ, enwere ike ịchọ iko iji meziwanye ọhụụ. Enwere ike inye ọgwụ ọgwụ iji nyere aka ịchịkwa njigide ma ọ bụ akwara muscle.

Ihe ndị a nwere ike inyekwu ozi gbasara IP:

• Incontinentia Pigmenti International Foundation - www.ipif.org
• Organizationtù Mba Maka Ọrịa Na-adịghị - rarediseases.org/rare-diseases/incontinentia-pigmenti

Otú mmadụ si eme nke ọma dabere na ogo nke itinye sistemu ụjọ na nsogbu anya.

Kpọọ onye na-eweta gị ma ọ bụrụ:

• Have nwere akụkọ ntolite ezinụlọ nke IP ma na-atụle ịmụ ụmụ
• Nwa gị nwere mgbaàmà nke nsogbu a

Ndụmọdụ mkpụrụ ndụ ihe nketa nwere ike inye aka maka ndị nwere akụkọ ntolite ezinụlọ nke IP ndị na-atụle ịmụ ụmụ.

Ọrịa Bloch-Sulzberger; Ọrịa Bloch-Siemens

• Incontinentia pigmenti na ụkwụ
• Incontinentia pigmenti na ụkwụ

Okpukpe Islam, Roach ES. Ọrịa Neurocutaneous. Na: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Ọkpụkpụ Bradley na Clinical Practice. Nke 7. Philadelphia, PA: Elsevier; 2016: isi 100.

James WD, Elston DM, Na-emeso JR, Rosenbach MA, Neuhaus IM. Genodermatoses na conomital anomalies. James WD, Elston DM, Na-emeso JR, Rosenbach MA, Neuhaus IM, eds. Ọrịa Andrews nke Skin: Clinical Dermatology. Nke 13. Philadelphia, PA: Elsevier; 2020: isi 27.

Thiele EA, Korf BR. Phakomatoses na ọnọdụ jikọrọ ọnụ. Na: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman’s Pediatric Neurology: cikpụrụ na Omume. Nke isii. Philadelphia, PA: Elsevier; 2017: isi 45.