BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?

Abstract

Abstract Lipoedematous scalp (LS) is a rare disorder characterized by thickening of the adipose subcutaneous scalp layer. We describe an unusual case of two female siblings presenting with the same condition. A 58-year-old black Caribbean woman presented with a 7-year history of an itchy, painful and scaly scalp, without any associated hair loss. Mycology had been negative. There was a history of paranoid schizophrenia and bipolar disorder, for which she was taking olanzapine. Body mass index (BMI) was 39 mg kg–2. Examination revealed a thickened scalp with a spongy consistency, with no associated surface change or hair loss. Scalp ultrasound was performed, demonstrating a scalp thickness of 12 mm at the vertex (normal range 5–6 mm). Scalp biopsy revealed prominent fat in the dermis around the hair follicles, with follicular distortion and some focal perifollicular fibrosis. Based on these findings, a clinicopathological diagnosis of LS was made. The patient’s 63-year-old sister presented with similar scalp symptoms. She had a background of diabetes mellitus type 2, migraine and hypomania and was taking metformin, gliclazide, atorvastatin, sodium valproate and mirabegron; her BMI was 26 mg kg–2. Scalp ultrasound revealed diffuse thickening of the subcutaneous fat measuring 9 mm at the vertex, which was also consistent with a diagnosis of LS. The pathogenesis of LS is poorly understood. It is more common in females, and there appears to be an association between LS and obesity (Yasar S, Gunes P, Serdar ZA, Tosun I. Clinical and pathological features of 31 cases of lipedematous scalp and lipedematous alopecia. Eur J Dermatol 2011; 21:520–8). Studies have implicated leptin, a hormone that regulates distribution of adipose tissue. There is limited evidence for a genetic role in LS. We identified three female cases of LS in the literature with a positive family history in their daughters (Yasar et al.) but no cases of siblings with LS. We identified one reported case of the related disorder, lipoedematous alopecia, occurring in a pair of female siblings (Koç Yıldırım S, İğde B. Lipedematous alopecia: report of two female siblings. J Cosmet Dermatol 2022; 21:1324–5). Our case highlights a possible genetic role in the pathogenesis of LS, and further studies are needed to investigate this link further.