ILamellar ichthyosis

ILamellar ichthyosis (LI) yimeko enqabileyo yesikhumba. Kubonakala ekuzalweni kwaye kuyaqhubeka ebomini.

I-LI sisifo esixhaphakileyo se-autosomal. Oku kuthetha ukuba umama notata bobabini kufuneka badlulisele ikopi enye engaqhelekanga yesifo kumntwana wabo ukuze umntwana abe nesi sifo.

Iintsana ezininzi ezine-LI zizalwa zinolusu olucacileyo, olukhazimlayo, noluyinyibilikisayo olubizwa ngokuba yicolodion membrane. Ngesi sizathu, aba bantwana baziwa ngokuba ziintsana zohlobo. Inwebu ishedi ngaphakathi kweeveki ezimbini zokuqala zobomi. Ulusu olungaphantsi kwembumba lubomvu kwaye lunexolo elifana nomphezulu wentlanzi.

Nge-LI, umaleko ongaphandle wesikhumba obizwa ngokuba yi-epidermis awunakukhusela umzimba njenge-epidermis esempilweni. Ngenxa yoko, umntwana one-LI unokufumana ezi ngxaki zempilo zilandelayo:

• Kunzima ukondla
• Ukuphulukana nolwelo (ukuphelelwa ngamanzi emzimbeni)
• Ukuphulukana nokulingana kwemaminerali emzimbeni (ukungalingani kwe-electrolyte)
• Iingxaki zokuphefumla
• Ubushushu bomzimba obungazinzanga
• Ulusu okanye usulelo lomzimba ngokubanzi

Abantwana abadala kunye nabantu abadala abane-LI banokuba nazo ezi mpawu:

• Izikali ezinkulu ezigubungela uninzi lomzimba
• Ukwehla kwamandla okubila, kubangele uvakalelo kubushushu
• Ukulahleka kweenwele
• Umnwe ongaqhelekanga kunye neenzwane
• Ulusu lweentende kunye neenyawo luye lwaqina

Iintsana zeCollodion zihlala zifuna ukuhlala kwicandelo lokhathalelo olunzulu lwe-neonatal (NICU). Zibekwe kwindawo yokufuma ephezulu yokufuma. Baza kufuna ukutya okongeziweyo. Izinto zokuthambisa kufuneka zifakwe eluswini. Emva kokuba inwebu yesibeleko iphalaziwe, iintsana zihlala zihlala ekhaya.

Ukunyamekela ubomi kwesikhumba kubandakanya ukugcina ulusu lufumile ukunciphisa ubungakanani bezikali. Amanyathelo afaka:

• Amafutha afakwa eluswini
• Amayeza abizwa ngokuba yi-retinoids ethathwa ngomlomo kwiimeko ezinzima
• Indawo enomswakama ophezulu
• Ukuhlamba ukukhulula izikali

Iintsana zisemngciphekweni wosulelo xa zichitha inwebu yentloko.

Iingxaki zamehlo zinokwenzeka kamva ebomini kuba amehlo akanako ukuvala ngokupheleleyo.

LI; Usana lweCollodion - lamellar ichthyosis; Ichthyosis lokuzalwa; I-Autosomal recessive congenital ichthyosis - uhlobo lwe-lamellar ichthyosis

• Ichthyosis ifunyenwe - imilenze

UMartin KL. Ukuphazamiseka kwekeratinization. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS. Umsebenzi weRC, uWilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 677.

IPatterson JW. Ukuphazamiseka kokuvuthwa kwe-epidermal kunye ne-keratinization. Ku: Patterson JW, ed. Weedon's Ulusu lwezifo. Umhla we-5. IPhiladelphia, PA: Elsevier; 2021: isahluko 10.

URichard G, Ringpfeil F.Ichthyoses, erythrokeratodermas, kunye nokuphazamiseka okunxulumene noko. Ku: I-Bolognia JL, uSchaffer JV, uCerroni L, ii-eds. Dermatology. Ngomhla we-4. IPhiladelphia, PA: Elsevier; 2018: isahluko 57.