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Autosomal recessive congenital ichthyosis 1

MONDO:0009441

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene.

Also known as: ARCI1, autosomal recessive congenital ichthyosis 1, autosomal recessive congenital ichthyosis type 1, ichthyosis, congenital, autosomal recessive type 1, LI1, collodion baby, self-healing, collodion fetus, collodion foetus

5 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Skin disorder (132) Human disease (14) Ichthyosis (12) Hereditary skin disorder (6) Inherited ichthyosis (6) Autosomal recessive congenital ichthyosis (2) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Not yet recruiting 1 Not yet finished but already full! 1 Completed 2 Terminated 1
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  • Rare skin disease patients develop even rarer lymphoma – scientists investigate why

    Knowledge-focused Not yet recruiting

    This study looks at the blood immune cells of 10 adults with a rare inherited skin condition called NIPAL4 ichthyosis. Researchers want to understand why three patients with this skin disease also developed a very rare lymphoma (Sezary syndrome). By describing the normal immune c…

    Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 11:02 UTC

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