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, 2 tagged with Autosomal recessive congenital ichthyosis 1 itself.

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Where it sits in the disease tree

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↑ Autosomal recessive congenital ichthyosis (10)

Including sub-types (5) Tagged with Autosomal recessive congenital ichthyosis 1 (2)

Not yet recruiting 1 Not yet finished but already full! 1 Completed 2 Terminated 1

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

Autosomal recessive congenital ichthyosis 1

Where it sits in the disease tree

Rare skin disease patients develop even rarer lymphoma – scientists investigate why