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This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This study reports that topical minoxidil 5% foam may effectively promote hair growth in congenital alopecia and hypotrichosis linked to desmoplakin mutations, as demonstrated by significant hair growth in an 8-year-old boy.