Lipoedematous Scalp Occurring in Two Female Siblings: Further Evidence of a Genetic Role?

The document reports on a rare case of lipoedematous scalp (LS), a condition characterized by thickening of the adipose subcutaneous scalp layer, in two female siblings, providing further evidence of a potential genetic role in the disorder. A 58-year-old woman with a history of psychiatric disorders and a BMI of 39 mg kg^-2 presented with an itchy, painful, and scaly scalp, but no hair loss. Scalp ultrasound showed a scalp thickness of 12 mm, and biopsy revealed prominent fat with follicular distortion. Her 63-year-old sister, with a history of diabetes and other conditions and a BMI of 26 mg kg^-2, presented with similar symptoms and a scalp thickness of 9 mm. Both were diagnosed with LS. Previous literature has suggested a possible association between LS and obesity and has implicated leptin in its pathogenesis. While there is limited evidence for a genetic role in LS, the authors note that this case, along with a few others in the literature, suggests a genetic component that warrants further investigation.