H syndrome presenting with bilateral cheek enlargement and an SLC29A3 gene variant

An adolescent girl presents with bilateral cheek enlargement, hyperpigmentation and hypertrichosis of the lower extremities with otological, cardiac, endocrine, and hepatosplenic involvement. Clinical findings supplemented by histopathological and wide exome sequencing results led to the diagnosis of H syndrome. The genetic testing showed a homozygous frameshift mutation in the SLC29A3 gene involving unique exon and codons. This case highlights the unique characteristics of H syndrome observed in a Filipino female with a variant of the SLC29A3 gene mutation.