case_images: PMC7362519_01
case_images: Patient pictures showing generalized fat loss. a: Near-total lack of adipose tissue and muscular appearance in the trunk. Arms are very muscular. Note that there is no fat accumulation in the neck. In contrast, subcutaneous fat is lost over shoulders and in the upper trunk. b: Subcutaneous fat is lost in the abdomen. Muscular appearance is remarkable. c: Arms are muscular with visible vessels and no subcutaneous fat. d: Subcutaneous fat is lost in the distal legs. Legs are muscular with prominent veins. e: Acanthosis nigricans and skin tags in the armpits associated with severe insulin resistance
case_images: 40842_2020_100_Fig1_HTML.jpg
case_images: PMC7362519_01_40842_2020_100_Fig1_HTML.jpg
case_images: Fig1
case_images: Physical examination revealed generalized fat loss (Fig. 1a and b) and prominent muscles in her upper (Fig. 1c) and lower extremities (Fig. 1d). She had acanthosis nigricans in the axillary regions (Fig. 1e), and the liver was palpable 2 cm below the costal margin. 
case_images: PMC7362519_02
case_images: Comparison of fat distribution. The whole-body MRI confirms generalized fat loss in the patient who had a homozygous pathogenic variant in the LMNA gene. Adipose tissue is well preserved around mons pubis and external genital region similar to heterozygous LMNA R582H patient and typical FPLD2 patients while fat tissue loss is noted in a generalized pattern in the scalp, mammary gland, abdomen visceral/subcutaneous, and extremities. Fluid like signal is detected in the bone marrow. Supraclavicular subcutaneous fat was preserved, but the amount of fat was significantly decreased in contrast to heterozygous LMNA R582H and typical FLPD2. The liver was steatotic and diffusely enlarged. Fat loss is partial in heterozygous LMNA p.R582H carrier (Fig. 2b) affecting the limbs, abdomen, breasts and the lower part of the body which is similar to typical FPLD2, although more subcutaneous fat was observed in the upper part of the trunk, over the shoulders, and head and neck (Fig. 2b and d). Retroorbital fat is preserved in all patients. a: Fat distribution in the patient with homozygous LMNA pathogenic variant, R582H; b: Fat distribution in the patient with heterozygous LMNA pathogenic variant, p.R582H; c: Fat distribution in a healthy control (28 years old, female); d: Fat distribution in a 30-year-old female with typical FPLD2 caused by heterozygous LMNA pathogenic variant p.R482W (c.1444C > T); e: Fat distribution in a 30-year-old female with the classical CGL1 phenotype caused by homozygous AGPAT2 pathogenic variant p.C48X (c.144C > A). In each panel I. Whole-body T1-weighted imaging; II. Retroorbital, axial T1 weighted- imaging; III. Head and neck, axial T1 weighted-imaging; IV. Trunk, axial T1 weighted-imaging; V. Pelvic region, axial T1 weighted-imaging, VI. Upper leg, axial T1 weighted imaging; VII. Sole, axial T1-weighted imaging
case_images: 40842_2020_100_Fig2_HTML.jpg
case_images: PMC7362519_02_40842_2020_100_Fig2_HTML.jpg
case_images: Fig2
case_images: The study revealed near-total loss of subcutaneous adipose tissue with preserved fat in the retroorbital area and palms and soles in our patient, resembling fat loss pattern observed in CGL1 (Fig. 2a and e). However, adipose tissue was very well preserved around mons pubis and external genital region (Fig. 2a), which is an unlikely finding in CGL1. On the other hand, fat loss was partial in the monoallelic LMNA p.R582H carrier (Fig. 2b) which was similar to typical FPLD2, although more subcutaneous fat was observed in the upper part of the body (Fig. 2b and d).