Nonbullous Congenital Ichthyosiform Erythroderma

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

TGM1, PNPLA1, ALOX12B, ABCA12, NIPAL4, ALOXE3, CYP4F22, LIPN, CERS3, SDR9C7, SULT2B1, ABHD5, GBA, LORICRIN, SPINK5, COG7, POMP, GTF2H5, TARS1, ERCC3, ERCC2, ALDH3A2, STS, FLG, SLC27A4, CAPN12, BCL2, COL17A1, CST6, SLC26A4

Drugs

Liarozole, Recombinant human transglutaminase 1 encapsulated into liposomes, Talarozole

Liarozole, Recombinant human transglutaminase 1 encapsulated into liposomes, Talarozole, Tazarotene, Trifarotene, replication-incompetent, non-integrating, herpes simplex virus 1 vector expressing the human transglutaminase-1 enzyme

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Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.