iarjsIARJSIARJS2789-6102https://doi.org/10.47310/iarjs.2025.v05i02.003Clinical, Histopathological, and Genetic Confirmation of H-Syndrome: A Case Report from Kirkuk, IraqH syndrome is an exceptionally rare autosomal recessive genodermatosis characterized by a distinctive combination of dermatologic abnormalities and multi-organ involvement. Fewer than 100 cases have been reported globally, and none to date from Iraq. We present an 11-year-old Iraqi boy exhibiting classical hallmarks of the syndrome, including symmetrical hyperpigmentation, hypertrichosis, sclerodermatous induration, sensorineural hearing loss, short stature, hallux valgus, arthritis, and mild splenomegaly. Histopathology demonstrated thickened dermal collagen bundles with histiocytic infiltration, while whole-exome sequencing confirmed a pathogenic SLC29A3 mutation, definitively establishing the diagnosis. This case underscores the importance of early recognition of this rare entity, particularly in regions where consanguinity is common, to prevent diagnostic delays and unnecessary interventions. Raising awareness among dermatologists, pediatricians, and rheumatologists is essential for improving patient outcomes and guiding appropriate genetic counseling.