We present a 46-year-old man with a greater than 15-year history of erythroderma. A definitive diagnosis has not been established. The differential diagnosis is discussed.
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Exp Dermatol
May 2024
Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China.
Actas Dermosifiliogr
September 2024
Dermatology Department of the Hospital Universitario 12 de Octubre, Madrid, Spain.
Int J Mol Sci
October 2023
State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, College of Forestry and Landscape Architecture, South China Agricultural University, Guangzhou 510642, China.
Biomolecules
March 2023
Neuromuscular and Rare Neurological Disease Center, Neurology Unit, San Filippo Neri Hospital, ASL Roma 1, 00135 Rome, Italy.
Neutral lipid storage disease type M (NLSD-M) is an ultra-rare, autosomal recessive disorder that causes severe skeletal and cardiac muscle damage and lipid accumulation in all body tissues. In this hereditary pathology, the defective action of the adipose triglyceride lipase (ATGL) enzyme induces the enlargement of cytoplasmic lipid droplets and reduction in the detachment of mono- (MG) and diglycerides (DG). Although the pathogenesis of muscle fiber necrosis is unknown, some studies have shown alterations in cellular energy production, probably because MG and DG, the substrates of Krebs cycle, are less available.
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