Related Experiment Video
Updated: Jul 4, 2025

05:38
Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus
Published on: May 16, 2025
76
Lipedematous Scalp Occurring in Two Female Siblings: Further Evidence for a Genetic Role
Nada Khalil1, James Carton2, Carolina P Fernandez1
1Department of Dermatology, Imperial College Healthcare NHS Trust, London, UK.
Skin Appendage Disorders
|February 6, 2024
Summary
Lipedematous scalp (LS) is a rare condition. This report details the first known cases of LS in siblings, suggesting a potential genetic link and association with psychiatric conditions.
Area of Science:
- Dermatology
- Genetics
- Pathology
Background:
- Lipedematous scalp (LS) is a rare disorder characterized by scalp adipose tissue thickening.
- Fewer than 100 cases of LS have been reported globally.
- LS in siblings has not been previously documented.
Observation:
- A case study of two Black Caribbean female siblings (58 and 63 years old) presenting with LS.
- Ultrasound revealed significant scalp thickness (12 mm and 11 mm) in both siblings.
- Histopathology showed prominent dermal fat, follicular distortion, and perifollicular fibrosis in the younger sibling.
Findings:
- This is the first reported instance of lipedematous scalp in siblings, suggesting a possible genetic predisposition.
- Both siblings had co-occurring psychiatric conditions (obesity, schizophrenia, bipolar disorder, hypercholesterolemia, diabetes mellitus, hypomania, migraines) and were on psychiatric medication.
- These psychiatric comorbidities represent a novel association with LS.
Implications:
- The familial occurrence of LS supports the hypothesis of a genetic component in its pathogenesis.
- The co-occurrence of LS with psychiatric disorders warrants further investigation into potential shared etiological factors.
- This case expands the clinical understanding of lipedematous scalp and its potential associations.
Related Concept Videos
Pedigree Analysis
84.3K
Overview
84.3K
X-linked Traits
54.9K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
54.9K
Pleiotropy
40.5K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.5K
Asymmetric Lipid Bilayer
7.2K
Biological membranes show uneven distribution of different types of lipids in the inner and outer layers, resulting in transverse asymmetric membranes. The treatment of the erythrocyte membrane with the enzyme phospholipase confirmed the asymmetric nature of the lipid bilayer. The enzyme hydrolyzes lipids into fatty acids and hydrophilic groups. The phospholipase acts only on the outer layer of the membrane, while the inner layer remains intact. The phospholipase treatment resulted in 80%...
7.2K
Lethal Alleles
15.4K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.4K
Overview of Lipid Metabolism
1.6K
Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
1.6K

