The First Documented Iraqi Case of Progeria: Clinical Discovery, Rare-Disease Medicine, and a Vision for Transforming Iraqi Medicine from Knowledge Consumer to Knowledge Produce

Abstract

Background: Hutchinson-Gilford progeria syndrome is an exceptionally rare genetic disorder, usually caused by a pathogenic variant in the LMNA gene, and characterized by progressive features of accelerated aging beginning in early childhood. Most affected children appear clinically normal at birth and during early infancy. Although Hutchinson-Gilford progeria syndrome has been recognized for more than a century, it remains extremely rare and individual case reports continue to contribute to its clinical and geographical documentation.

Objective: To report the first documented case of Hutchinson-Gilford progeria syndrome in Iraq and describe its characteristic clinical phenotype.

Patient and Methods: A boy who had apparently normal development during birth, infancy, and early childhood developed a progressive severe progeroid phenotype at approximately 10 years of age. Clinical assessment revealed characteristic physical manifestations of premature aging, including body habitus, skin, hair, facial appearance, eyes, and dentition. The clinical findings were compared with the established phenotype of Hutchinson-Gilford progeria syndrome and other childhood-onset progeroid disorders.

Results: The predominant abnormality was progressive generalized loss of subcutaneous fat, resulting in a markedly thin, skeletal appearance. Additional findings included thin, tight, atrophic skin with prominent superficial blood vessels, alopecia, markedly aged facial features, prominent eyes with bilateral ectropion, and abnormal dentition.

The overall clinical phenotype was strongly suggestive of Hutchinson-Gilford progeria syndrome.

Conclusion: This report documents, to our knowledge, the first reported case of Hutchinson-Gilford progeria syndrome in Iraq. The case emphasizes the importance of careful clinical recognition and documentation of rare progeroid phenotypes. In rare-disease medicine, detailed phenotyping remains essential for diagnosis and provides an important foundation for subsequent molecular investigation and inclusion of previously under-recognized patients in the international medical literature.

Keywords: Progeria; Iraq; Rare Disease

Citation

Aamir Jalal Al-Mosawi. The First Documented Iraqi Case of Progeria: Clinical Discovery, Rare-Disease Medicine, and a Vision for Transforming Iraqi Medicine from Knowledge Consumer to Knowledge Produce. WebLog J Genet Genomic Res. wjggr.2026.j1003. https://doi.org/10.5281/zenodo.23337005