DSG4 Gene Variants as a Cause of Hypotrichosis in a Child with Severe Atopic Dermatitis: Clinical Case

This clinical case study describes a 2-year-old girl with severe atopic dermatitis and hypotrichosis, a heritable form of alopecia causing significant scalp hair loss. The diagnosis of hypotrichosis was confirmed through genetic testing, identifying a nucleotide variant in the DSG4 gene, which affects the synthesis of desmosomes and contributes to epidermal barrier failure. The patient's family also carried a related genetic variant, with varying clinical manifestations. The study highlights the importance of genetic testing in diagnosing hypotrichosis, especially when clinical signs are subtle or overlap with other conditions like atopic dermatitis.