Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2026-03-26 @ 3:17 PM
Ignite Modification Date:
2026-03-26 @ 3:17 PM
NCT ID:
NCT07477769
Brief Summary:
Autosomal recessive congenital ichthyoses (ARCI) are monogenic diseases of cornification that correspond to a diffuse abnormality (affecting the entire integument) of epidermal differentiation and therefore of the skin barrier. They manifest as abnormal desquamation (scaling) associated with varying degrees of inflammation (erythema). Around ten genes are currently implicated in ARCI. Nipal 4 is one of these genes, and mutations in it are found in around 1/10 of genotyped ARCI patients.
As part of this follow-up, three Nipal4 ARCI (Nipal4-nEDD) patients followed by the dermatology department of Saint-Louis hospital (Paris) were diagnosed with Sezary syndrome, a rare and serious cutaneous lymphoma (incidence 1/10,000,000), in adulthood (aged 30, 46, and 82). This lymphoma was diagnosed following a change in skin phenotype with worsening erythema, pruritus, and hyperkeratosis. The occurrence of two very rare diseases ( Nipal4-nEDD) and Sezary syndrome) in three patients raises the question of a non-coincidental association. The diagnosis of Sézary syndrome is based on a specific pathological circulating lymphocyte phenotype and is confirmed by skin histology. There is currently no obvious pathophysiological explanation for the concomitant occurrence of these two skin diseases. The blood lymphocyte phenotype of Nipal 4-nEDD patients without Sezary syndrome (SS) is unknown. A first step in investigating the mechanisms that could explain such an association would be to document this baseline lymphocyte phenotype in the Nipal 4-nEDD population without known SS.
Study:
NCT07477769
Study Brief:
Protocol Section:
NCT07477769