• Archives of Plastic Surgery
• /
• v.48 no.6
• /
• pp.685-690
• /
• 2021

Background Human immunodeficiency virus (HIV)-associated lipodystrophy is a known consequence of long-term highly active antiretroviral therapy (HAART). However, a significant number of patients on HAART therapy were left with the stigmata of complications, including fat redistribution. Few studies have described the successful removal of focal areas of lipohypertrophy with successful outcomes. This manuscript reviews the outcomes of excisional lipectomy versus liposuction for HIV-associated cervicodorsal lipodystrophy. Methods We performed a 15-year retrospective review of HIV-positive patients with lipodystrophy. Patients were identified by query of secure operative logs. Data collected included demographics, medications, comorbidities, duration of HIV, surgical intervention type, pertinent laboratory values, and the amount of tissue removed. Results Nine male patients with HIV-associated lipodystrophy underwent a total of 17 procedures. Of the patients who underwent liposuction initially (n=5), 60% (n=3) experienced a recurrence. There were a total of three cases of primary liposuction followed by excisional lipectomy. One hundred percent of these cases were noted to have a recurrence postoperatively, and there was one case of seroma formation. Of the subjects who underwent excisional lipectomy (n=4), there were no documented recurrences; however, one patient's postoperative course was complicated by seroma formation. Conclusions HIV-associated lipodystrophy is a disfiguring complication of HAART therapy with significant morbidity. Given the limitations of liposuction alone as the primary intervention, excisional lipectomy is recommended as the primary treatment. Liposuction may be used for better contouring and for subsequent procedures. While there is a slightly higher risk for complications, adjunctive techniques such as quilting sutures and placement of drains may be used in conjunction with excisional lipectomy.

• Maxillofacial Plastic and Reconstructive Surgery
• /
• v.34 no.3
• /
• pp.205-208
• /
• 2012

Lipodystrophy is a disorder characterized by the loss of subcutaneous adipose tissue which is inherited or heterogeneously acquired. We report 3 uncommon cases of localized lipodystrophy on face which distinguished 1 year after cyst enucleation of mandibular posterior area.

• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.15-18
• /
• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• BMB Reports
• /
• v.51 no.7
• /
• pp.327-337
• /
• 2018

Lamin A and its alternative splicing product Lamin C are the key intermediate filaments (IFs) of the inner nuclear membrane intermediate filament. Lamin A/C forms the inner nuclear mesh with Lamin B and works as a frame with a nuclear shape. In addition to supporting the function of nucleus, nuclear lamins perform important roles such as holding the nuclear pore complex and chromatin. However, mutations on the Lamin A or Lamin B related proteins induce various types of human genetic disorders and diseases including premature aging syndromes, muscular dystrophy, lipodystrophy and neuropathy. In this review, we briefly overview the relevance of genetic mutations of Lamin A, human disorders and laminopathies. We also discuss a mouse model for genetic diseases. Finally, we describe the current treatment for laminopathies.

• Imaging Science in Dentistry
• /
• v.50 no.3
• /
• pp.255-260
• /
• 2020

Acquired facial lipoatrophy is a rare disease with an unclear etiology and pathological pathway. The distinct causative factors of this disease have been not elucidated, but it is suspected to be associated with immune system-related diseases, most notably AIDS. Although the management of facial lipoatrophy is very important for patients' social life and mental health, no treatment framework has been developed due to the unknown nature of the disease manifestation. The present case report was designed to provide sequential imaging to visualize the disease progression. The clinical backgrounds of the patients are also introduced, helping characterize this disease entity more clearly for maxillofacial specialists.

• Journal of the Korean neurological association
• /
• v.30 no.4
• /
• pp.333-336
• /
• 2012

Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes; Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor neuropathy type V (dHMN-V). Up to now, only two heterozygous mutations (N88S and S90L) in BSCL2 have been reported. We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient.

• Development and Reproduction
• /
• v.17 no.3
• /
• pp.275-287
• /
• 2013

Although, one of the etiologies of localized lipodystrophy of the subcutaneous connective tissue (cellulite) is the histological alternation of adipose tissue, the characteristics of expression of the components of extracellular matrix (ECM) components during adipogenesis are not uncovered. In this study, the effects of caffeine and Ishige okamurae originated diphlorethohydroxycarmalol (DPHC) on the expression of extracellualr fibers was analyzed with quantitative RT-PCR during differentiation induction of mouse subcutaneous adipose derived stem cells (msADSC) into adipocyte. The expression levels of Col1a, Col3a1, and Col61a were decreased by the adipogenci induction in a time-dependent manners. However, Col2a mRNA and Col4a1 mRNA expressions were oposit to them. Caffeine and DPHC stimulated the changes of the expression of these collagens. Eln mRNA expression was increased by induction. DPHC stimulated the expression of it. Mfap5 mRNA expression was deceased in both adipogenic cell and matured adipocytes. Caffeine suppressed the expression of Mfap5 but the effect of DPHC was different by the concentration. The expression of bioglycan, decorin, and lumican were also modified by caffeine and DPHC in a concentration-dependent manner. Based on this study, we revealed firstly the effects of caffeine and DPHC on the expression of collagens, elastin, and glycoproteins during adipogenesis of msADSCs. Those results suggest that DPHC may have antiadipogenic effect and has more positive effets on normal adipose tissue generation and work as suppressor the abnormality of ECM structure. Such results indicate that DPHC can be applied in keeping the stability of the ECM of adipogenic tissues.

• Childhood Kidney Diseases
• /
• v.7 no.2
• /
• pp.204-210
• /
• 2003

Membranoproliferative glomerulonephritis type II(MPGN II), also called dense deposit disease, was first described by Berger and Galle in 1963. The diagnosis of MPGN II is based on electron-microscopic finding of an intensely electron-dense substance which replaces the lamina densa of the glomerular basement membrane. Although the etiology and pathogenesis of MPGN II are unknown, it frequently progresses to end-stage renal failure. Typically in MPGN II, hypocomplementemia due to activation of the alternative complement pathway is present. In addition, the association of MPGN II with partial lipodystrophy and complement abnormalities is well documented. The relationship between these associated features and the patient's renal functional outcome is not clear. With respect to the therapy for MPGN II, an alternate-day prednisolone regimen was shown to be effective. Various treatment modalities, including immunosuppression with corticosteroids, cytotoxic drugs and cyclosporin A, anticoagulants and antiplatelet therapies are used, either alone or in combination, with varying degrees of success. The purpose of this paper is to present a case of MPGN II from a 7 years old girl with paroxysmal supraventricular tachycardia(PSVT).