Unlabelled: Body dysmorphic disorder (BDD) is characterized by excessive preoccupation with a slight or imagined defect in one's physical appearance, believing they look ugly, abnormal or deformed. While the most common preoccupations focus on the skin, hair and nose, any part of the body may be involved. Preoccupations are intrusive, time-consuming and hard to control. Repetitive behaviors are performed in response to the preoccupations. BDD is associated with marked impairment in socio-professional functioning, poor quality of life and high suicide rates.
Clinical Characteristics: BDD appears to be relatively common with a prevalence rate between 1 and 2% in general population with a chronic course evolution without treatment, it is also associated with a high rate of depression and suicide. The current prevalence in adult psychiatric population is estimated over 10%; prevalence is also elevated in dermatology and cosmetic surgery patients.
Therapeutic: Adequate treatments may improve symptoms and quality of life. International guidelines recommend cognitive behavior therapy (CBT) as first line of treatment. Several studies have shown evidence of CBT benefit. High dose selective serotonin reuptake inhibitors (SRI) for at least 12weeks are recommended in more severe cases. SRI augmentation strategies with antipsychotic adjunction do not report benefit in small-size sample. Antipsychotic medication for BDD even with delusional beliefs is not indicated. Attachment based interpersonal psychotherapy, analyzing and correcting interpersonal relationship from individuals with BDD may represent an alternative therapy improving self-esteem.
Cosmetic Treatments: Insight is generally poor and patients often require cosmetic and surgical treatments to "correct" their imagined defect with sometimes a transitional initial benefit but without positive impact on long-term remission and can exacerbate preoccupation.
Screening And Awareness: Healthcare professionals need to be aware of an early detection of this trouble, clinical tools validated in cosmetic population can help them to identify BDD in order to provide education about diagnosis and refer patients to a psychiatrist. More collaboration between psychiatrists and cosmetic practitioners is necessary.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.encep.2017.08.001 | DOI Listing |
Nat Rev Dis Primers
January 2025
European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.
Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.
View Article and Find Full Text PDFEur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFStem Cell Res
December 2024
Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia. Electronic address:
A rare neurodevelopmental disorder has been linked to a well-conserved splice site variant in the TRAPPC4 gene (c.454 + 3A > G), which causes mis-splicing of TRAPPC4 transcripts and reduced levels of TRAPPC4 protein. Patients present with severe progressive neurological symptoms including seizures, microcephaly, intellectual disability and facial dysmorphism.
View Article and Find Full Text PDFPLoS One
January 2025
Institute for Biomedical Ethics, University of Basel, Basel, Switzerland.
Introduction: 22q11 deletion syndrome (22q11DS) results from a microdeletion on chromosome 22 and is the most common microdeletion disorder in humans, affecting 1 in 2148 live births. Clinical manifestations vary widely among individuals and across different life stages. Effective management requires the involvement of a specialized multidisciplinary team.
View Article and Find Full Text PDFCurr Cardiol Rep
January 2025
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), European Reference Network for Rare, University of Trieste, Via P. Valdoni 7, 34100, Trieste, Italy.
Purpose Of Review: Hot phases are a challenging clinical presentation in arrhythmogenic cardiomyopathy (ACM), marked by acute chest pain and elevated cardiac troponins in the absence of obstructive coronary disease. These episodes manifest as myocarditis and primarily affect young patients, contributing to a heightened risk of life-threatening arrhythmias and potential disease progression. This review aims to synthesize recent research on the pathophysiology, diagnostic challenges, and therapeutic management of hot phases in ACM.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!