Autosomal recessive congenital ichthyosis 4A

MONDO:0011026

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.

Also known as: ARCI4A, ICR2B, autosomal recessive congenital ichthyosis type 4A, ichthyosis, congenital, autosomal recessive type 4A, LI2, ichthyosis congenita 2B, ichthyosis lamellar 2, ichthyosis, congenital, autosomal recessive 4A

3 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive congenital ichthyosis 4A itself.

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Where it sits in the disease tree

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↑ Autosomal recessive congenital ichthyosis (10) ↑ Lamellar ichthyosis (4)

Sub-types of Autosomal recessive congenital ichthyosis 4A

Autosomal recessive congenital ichthyosis 4B 0 trials

Including sub-types (3) Tagged with Autosomal recessive congenital ichthyosis 4A (0)

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

New ointment shows promise for rare skin condition

Disease control Completed

This Phase 3 study tested an ointment called TMB-001 in 153 people aged 6 and older with X-linked or ARCI ichthyosis, conditions that cause dry, scaly, and cracked skin. Participants applied the ointment or a placebo daily for 12 weeks, with some continuing for maintenance. The g…

Phase 3 • Sponsor: LEO Pharma • Aim: Disease control

Last updated Jun 27, 2026 12:36 UTC

Autosomal recessive congenital ichthyosis 4A

Where it sits in the disease tree

New ointment shows promise for rare skin condition