Facial Lipoatrophy

The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular anomalies and overgrowth syndromes. Germline PIK3R1 variants are associated with varying phenotypes, including immunodeficiency or facial dysmorphism with growth delay, lipoatrophy, and insulin resistance associated with SHORT syndrome. There has been limited study of the molecular mechanism to unify our understanding of how variants in PIK3R1 drive both undergrowth and overgrowth phenotypes...

Radiesse® is a filler composed of calcium hydroxylapatite microspheres suspended in a carboxymethylcellulose gel (CaHA/CMC). It has robust rheological properties that have been associated with its versatility. CaHA/CMC is employed for both on-label indications of filling wrinkles or lines, volumizing, and contouring of areas as well as off-label indications aiming at biostimulation and skin tightening. However, despite the expanding use of CaHA/CMC, overall evidence and recommendations for treatment are currently lacking...

BACKGROUND: With the advent of antiretroviral treatment (ART), human immunodeficiency virus/AIDS has become a chronic manageable disease. Though life expectancy has improved, it brings alongside effects of long-term medical treatment. One of the major side effects is body dysmorphism, which leads to esthetic problems. Problems of lipodystrophy (LDS), especially facial lipoatrophy as well as facial and upper back lipohypertrophy are perceived by patients as highly stigmatizing manifestations of their human immunodeficiency virus infection...

No abstract text is available yet for this article.

OBJECTIVE: The aim of this study was to assess the prevalence of orofacial manifestations in a Brazilian cohort of people living with HIV/AIDS (PLWHIV) using long-term combined antiretroviral therapy (cART) and to correlate the presence of these manifestations with clinical and laboratory characteristics. STUDY DESIGN: A cross-sectional observational study evaluated 101 Brazilian PLWHIV. Demographic characteristics, medical history, and laboratory data were collected...

Food and Drug Administration approved indications of hyaluronic acid fillers include some facial wrinkles or skin folds like naso-labial folds, perioral wrinkles, volumization of lip, cheek, chin, and dorsal region of the hands, also acne scars and lipoatrophy of human immunodeficiency virus positive patients. This article reviews the off-label indications of hyaluronic acid fillers such as connective tissue disorders (lupus erythematosus, scleroderma, and dermatomyositis), lipoatrophy associated with other diseases, breast volumization, giving volume to buttocks and the feet, implant into bone, tendon, ligament or muscle, injection to glabella, nose, periorbital region, forehead, or neck...

Lupus panniculitis (LP) often presents with tender nodules and intermittent ulcers that then heal with scarring and lipoatrophy. The current mainstay of treatment is medical treatment. Research regarding the treatment of lipoatrophy from LP with autologous fat grafting is limited. We would like to share our experience in this rare case, which was treated with autologous fat transfer. A 48-year-old female presented with erythematous plaque, tender nodules, and ulcers following by a depression of the lesion at the left temporal area...

BACKGROUND: Human immunodeficiency virus (HIV)-associated facial lipoatrophy (FLA) is a stigmatizing side effect associated with the use of highly active antiretroviral therapy. We sought to evaluate the safety and efficacy of the hyaluronic acid filler mixed with micronized cross-linked acellular dermal matrix (HA/MADM) in HIV-associated FLA. METHODS: We conducted an open-label safety and efficacy study in patients with HIV-associated FLA. Fourteen patients received single injection of the HA/MADM, and 13 patients completed the 24-week follow-up evaluation...

Facial feminization surgery (FFS) with its proven safety and efficacy has become a mainstay surgical approach for those desiring gender-specific perceived feminine facial aesthetics. To date, specific characteristics of patients seeking FFS have been limited, with no studies investigating the role of the Human Immunodeficiency Virus (HIV) on FFS outcomes. The potential clinical implications of HIV and more specifically HIV-associated lipodystrophy, which can cause facial lipoatrophy, require further investigation...

Acromegaly is a hormonal disorder which occurs as the result of growth hormone (GH) and insulin growth factor 1 (IGF-1) over-secretion; both hormones are related to skin anomalies. The skin acts as a large endocrine organ, hosting GH receptors in every cell while IGF-1 receptors are expressed only in keratinocytes. This review is a literature review of skin anomalies found in acromegaly, either related to the disease itself or associated with related complications such as secondary diabetes mellitus, or involving associated conditions such as genetic syndromes...

The safety and efficacy of Poly-L-lactic acid (PLLA) as an injectable facial volumizer for the treatment of lipoatrophy and facial rejuvenation has been widely proven. We experienced a remarkable case of deep-seated nodules on both the cheeks of 57-year-old female 18-months after administration of PLLA filler injection for cosmetic purpose and performed a skin biopsy. With hematoxylin and eosin stain, the nodule showed non-caseating granulomas consisting of histiocytes with central foreign bodies in the dermis...

No abstract text is available yet for this article.

BACKGROUND: SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1...

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...

No abstract text is available yet for this article.

Néstor-Guillermo progeria syndrome (NGPS; OMIM 614008) is characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. It is an autosomal recessive condition caused by biallelic pathogenic variants in BANF1. There are two previously reported patients with NGPS, both Spanish with molecular diagnoses made in adulthood and having the same homozygous pathogenic variant c...

BACKGROUND: Facial aging is a multifactorial process characterized by structural changes to the dermis and ligaments, lipoatrophy in the fat pads and hypodermis, remodeling of the bony skeleton, change in muscle tonicity and tissue descent. AIMS: The purpose of this study is to evaluate the efficacy of a hyaluronic acid-based treatment for the aging face that addresses all its causes in a caudal to cranial and medial to lateral direction: the centrifugal technique...

Poly-l-lactic acid (PLLA), a synthetic, biocompatible, biodegradable polymer, has been safely used in several clinical applications in recent decades. Typically, SculptraTM , the commercially injectable PLLA in the form of microparticles, has been used as facial volumizer in the treatment of lipoatrophy in HIV patients. It also has various applications in tissue engineering by improving cell proliferation and adhesion. Sculptra™ can be categorised as a stimulatory filler as it stimulates the synthesis and deposition of fibrous tissue and collagen...

BACKGROUND: Soft tissue fillers are typically used for rejuvenating an aging face, they are also employed in the treatment of certain pathologic conditions , including facial lipoatrophy, morphological asymmetry, and debilitating scars. AIMS: The aim of this clinical study was to evaluate the effectiveness and safety of Princess® Volume (PV) in patients with facial lipoatrophy (FLA), morphological asymmetry (MA) or debilitating scars (DS). Patients/Methods This prospective, non-comparative, multicenter clinical study consisted of five visits spread across 36 weeks...

Cockayne syndrome is an autosomal recessive multi-systemic disorder due to DNA repair failure. It was originally described in 1936 in children of small stature, retinal atrophy and deafness, characterized by dwarfism, cachexia, photosensitivity, premature aging and neurologic deficits. The most typical feature is described as birdlike facies: protruding maxilla, facial lipoatrophy, sunken eyes, large ears and thin nose. Difficult airway management with subglottic stenosis and risk of gastric content aspiration has been described...