Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.

Background

Childhood systemic lupus erythematosus (cSLE) has been considered as a polygenic autoimmune disease; however, a monogenic lupus-like phenotype is emerging with the recent recognition of several related novel high-penetrance genetic variants. RASopathies, a group of disorders caused by mutations in the RAS/MAPK pathway, have been recently described as a cause of monogenic lupus.

Case presentation

We present a 13-year-old boy with Noonan-like syndrome with loose anagen hair who developed a monogenic lupus. The renal biopsy confirmed a class III lupus nephritis and identified the presence of zebra bodies.

Conclusions

RASopathies represent a cause of monogenic lupus. We report a new case of monogenic lupus in a child with Noonan-like syndrome with loose anagen hair. Lupus nephritis which has never been described in this context, may be part of the presentation. The presence of zebra bodies in SLE or RASopathies in unclear, but no other known conditions (Fabry disease or drugs) were identified as the cause of zebra bodies in our patient.

© 2024. The Author(s).

Overview publication

TitleMonogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.
Date2024-01-18
Issue namePediatric rheumatology online journal
Issue numberv22.1:17
DOI10.1186/s12969-023-00939-z
PubMed38238724
AuthorsMorán-Álvarez P, Gianviti A, Diomedi-Camassei F, Ginevrino M, de Benedetti F & Bracaglia C
KeywordsChildren, Genetic, Monogenic, Noonan syndrome, RAS/MAPK, SHOC2, Systemic lupus erythematosus, Zebra bodies
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