Facial Lipoatrophy

BACKGROUND: Lipodystrophies are a group of diseases which are characterized by abnormal adipose tissue deposition and are frequently associated with metabolic changes. Congenital generalized lipodystrophy is an autosomal recessive syndrome, with a prevalence < 1:10 million. Acromegaly is a rare disease, secondary to the chronic hypersecretion of growth hormone and insulin-like growth factor-1, with characteristic metabolic and somatic effects. "Acromegaloidism" is a term used for patients who manifest clinical features of acromegaly, but do not present a demonstrable hormone growth hypersecretion...

BACKGROUND: Facial lipoatrophy is a rare condition described by the disappearance of facial subcutaneous fat. The etiology of lipoatrophy can be congenital, or acquired including traumatic, iatrogenic or idiopathic. Idiopathic facial lipoatrophy has only been previously identified in three case reports, among which, the patient demographics vary considerably. Two of these case reports have identified a role for autologous fat transfer as a means of treatment. This case differs from those in the literature in patient demographics and severity of the facial lipoatrophy...

Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in DDX3X, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developmental delay or intellectual disability, growth disturbance and movement disorder. Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum...

BACKGROUND: Highly purified liquid-injectable silicone (LIS) has been established as a permanent agent for off-label correction of HIV-associated facial lipoatrophy (HIV-FLA). However, controversy exists about long-term safety. OBJECTIVE: To establish the safety and efficacy at 10 years or greater of LIS for HIV-FLA. METHODS: Patients from 3 practices with 10-year or greater in-person office follow-up were analyzed to determine the number of LIS treatments and total volume required to achieve optimal correction...

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CONTEXT: Lipodystrophy syndromes are rare disorders characterized by the selective loss of adipose tissue. We aimed to report the first case of acquired generalized lipodystrophy possibly associated with nivolumab. CASE DESCRIPTION: A woman was referred to our Endocrinology Department for uncontrolled diabetes mellitus. At 50 years of age, she was diagnosed with type 2 diabetes after a routine laboratory test and her diabetes was well controlled with low doses of metformin...

Purpose: The aim of this study was to evaluate the effectiveness and safety of hyaluronic acid (HA) dermal filler when used in the face for medical reconstructive purposes. Patients and methods: Adult patients with moderately severe facial lipoatrophy (FLA), morphological asymmetry (MA) of the face, or debilitating scars (DS) on the face were included in a prospective, noncomparative, multicenter, postmarket clinical follow-up study. All patients were treated with an HA filler (Princess® FILLER), which was injected intradermally on study Day 1, with optional touch-up 2 weeks later...

BACKGROUND: Acquired partial lipodystrophy (APL) is characterized by the gradual symmetrical loss of subcutaneous fat starting from the face, spreading towards the upper part of the body and sparing the lower extremities. OBJECTIVE: We report a 33- year-old woman with facial lipodystrophy, loss of buccal fat pads, and breast fat tissue. The subcutaneous fat was preserved in other anatomic regions, and we noted some excess of fat accumulation in the lower abdomen and thighs...

Background: Available options for correction of facial volume loss, such as synthetic fillers, autologous fat and cultured fibroblasts, have limitations viz. temporary effect and high cost. Aim: To assess the use of a novel technique, autologous non-cultured dermal cell suspension transplantation, for correction of localized facial volume loss due to inflammatory pathologies. Methods: It was a pilot study conducted in the Dermatology Outpatient Department, All India Institute of Medical Sciences (AIIMS), New Delhi, India...

BACKGROUND: The objective of this study was to evaluate and compare the safety and effectiveness of four different dermal fillers in the treatment of facial lipoatrophy secondary to human immunodeficiency virus. METHODS: The authors conducted a clinical trial including 147 patients suffering from human immunodeficiency virus-induced lipoatrophy treated with Sculptra (poly-L-lactic acid), Radiesse (calcium hydroxylapatite), Aquamid (polyacrylamide), or autologous fat...

BACKGROUND: Poly-L-lactic acid (PLLA) is a biostimulatory filler approved for use in HIV lipoatrophy as well as cosmetic improvement in facial folds and wrinkles in immunocompetent patients. Similar to the face and hands, the décolletage is commonly subject to photodamage and the resulting appearance of rhytids and crepiness, which could benefit from PLLA treatment. OBJECTIVES: The objective of the study was to assess the safety and efficacy of injected PLLA for the improvement in rhytids and crepiness of the décolletage...

Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome...

Injectable fillers are widely used for facial rejuvenation, correction of disabling volumetric fat loss in HIV-associated facial lipoatrophy, Romberg disease, and post-traumatic facial disfiguring. The purpose of this article is to acquaint the reader with the anatomy of facial fat compartments, as well as with the properties and key imaging features of commonly used facial fillers, filler-related complications, interpretation pitfalls, and dermatologic conditions mimicking filler-related complications. The distribution of facial fillers is characteristic and depends on the anatomy of the superficial fat compartments...

SHORT syndrome is a rare, recognizable syndrome resulting from heterozygous mutations in PIK3R1 encoding a regulatory subunit of phosphoinositide-3-kinase (PI3K). The condition is characterized by short stature, intrauterine growth restriction, lipoatrophy and a facial gestalt involving a triangular face, deep set eyes, low hanging columella and small chin. PIK3R1 mutations in SHORT syndrome result in reduced signaling through the PI3K-AKT-mTOR pathway. We performed whole exome sequencing for an individual with clinical features of SHORT syndrome but negative for PIK3R1 mutation and her parents...

<p>Injectable soft-tissue augmentation agents have become popular alternatives to surgical procedures for the aging face and body. In contrast to temporary, space-occupying replacement fillers such as collagen-based and hyaluronic acid products, poly-l-lactic acid (PLLA) has been demonstrated to gradually promotes deposition of collagen via a biostimulatory response, with therapeutic effects lasting approximately two years. In 2004, the FDA approved its use for rejuvenation of facial contours secondary to lipoatrophy associated with antiretroviral therapy for HIV infection...

The development of antiretroviral (ARV) drugs to treat HIV has turned what was once a death sentence into a chronic disorder. However, a focus on absence of disease in the form of an undetectable viral load and the dismissal of the so-called "cosmetic" complications of the disease ignores perceptions of health and well-being of those living with HIV. Facial lipoatrophy is a stigmatising side effect of treatment for HIV as it betrays the presence of the virus within the body. The study took a longitudinal qualitative approach, interviewing 11 people twice over a period of 1 year on their experience of living with HIV...

Focal adipose deficiency, such as lipoatrophy, lumpectomy or facial trauma, is a formidable challenge in reconstructive medicine, and yet scarcely investigated in experimental studies. Here, we report that Pyrintegrin (Ptn), a 2,4-disubstituted pyrimidine known to promote embryonic stem cells survival, is robustly adipogenic and induces postnatal adipose tissue formation in vivo of transplanted adipose stem/progenitor cells (ASCs) and recruited endogenous cells. In vitro, Ptn stimulated human adipose tissue derived ASCs to differentiate into lipid-laden adipocytes by upregulating peroxisome proliferator-activated receptor (PPARγ) and CCAAT/enhancer-binding protein-α (C/EBPα), with differentiated cells increasingly secreting adiponectin, leptin, glycerol and total triglycerides...

BACKGROUND: The prevalence of lipodystrophy ranges from 31 to 65%, depending on the criteria adopted for diagnosis. The usual methods applied in the diagnosis vary from self-perception, medical examination, skinfolds measurements, or even imaging assessment for confirmation of fat distribution changes. Although several methods have been developed, there is no gold standard for characterization of LA and LH, or mixed forms. This study aimed to compare self-reported signs of lipodystrophy with objective measures by skinfolds and circumferences, and to evaluate the prevalence of lipoatrophy (LA) and lipohypertrophy (LH) among subjects living with HIV/AIDS on ART...

Many dermal fillers are available for various cosmetic rejuvenation purposes including but not limited to treatment of facial rhytides, nasolabial folds (NLFs), facial volume deficits, and lipoatrophy; facial contouring; and lip and/or cheek augmentation. To update clinicians on best practices, we review the efficacy and safety data on the most recently approved dermal fillers.

Injectable poly-L-lactic acid (PLLA) is world-famous filler used in lipoatrophy and facial rejuvenation because of its collagen neogenesis effect which leads to gradual volume restoration. Until recently, quite a number of unwanted adverse events of PLLA have been reported. However, to the best of our knowledge, paraffinoma as a complication of PLLA has never been reported. We herein describe the first case of paraffinoma after Sculptra® injection and propose its possible mechanism.