Young adult with Cantú syndrome: dealing with a rare genetic skin disorder

2021 ◽  
Vol 14 (7) ◽  
pp. e243118
Author(s):  
Helen I Roessler ◽  
Gijs van Haaften ◽  
Mieke M van Haelst
Keyword(s):  
Young Adult ◽  
Personal Development ◽  
Skin Disorder ◽  
Clinical Manifestations ◽  
Skin Condition ◽  
Facial Dysmorphism ◽  
Emotional Impact ◽  
Newly Diagnosed ◽  
Skin Conditions ◽  
The Impact

This case report of a young adult with Cantú syndrome (CS) illustrates a remarkable journey of learning how to cope with symptom management and emotional impact associated with a rare skin condition. We describe a 20-year-old woman with a CS-related mutation in ABCC9 resulting in clinical manifestations, including congenital hypertrichosis, facial dysmorphism and cardiomegaly. As of yet, no treatment is available for CS.Little is known about the impact of CS and similar (skin) conditions on the life of affected individuals, and about their needs and preferences in this regard. Hence, we describe the psychosocial implications our case had to deal with immediately after her diagnosis. In addition, we outline her significant progress in managing disease-associated features and emotional stress prompted by considerable personal development and an increase in confidence. This example shows that a normal lifestyle is achievable for (newly diagnosed) individuals despite suffering from CS or a related skin disorder.

Understanding the Experiences of Anger in the Onset and Progression of Psoriasis: A Qualitative Study Using Social Media (Preprint)

2021 ◽  
Author(s):  
Olivia Hughes ◽  
Rachael Hunter
Keyword(s):  
Social Media ◽  
Qualitative Interviews ◽  
Psychosocial Interventions ◽  
Skin Condition ◽  
Future Research ◽  
Social Media Platforms ◽  
Chronic Skin ◽  
Skin Conditions ◽  
The Impact

BACKGROUND Psoriasis is a chronic inflammatory skin condition, which can be affected by stress. Living with psoriasis can trigger negative emotions, which may influence quality of life. OBJECTIVE This study explored the experiences of people with psoriasis with attention to the potential role of anger in the onset and progression of the chronic skin condition. METHODS Semi-structured qualitative interviews were conducted with twelve participants (n=5 females, n=7 males) recruited online from an advert on a patient charity’s social media platforms. Data were transcribed and analysed using thematic analysis. RESULTS Four key themes were identified: (1) ‘I get really angry with the whole situation:’ anger at the self and others, (2) the impact of anger on psoriasis: angry skin, (3) shared experiences of distress, and (4) moving past anger to affirmation. CONCLUSIONS Findings suggest that anger can have a perceived impact on psoriasis through contributing to sensory symptoms and unhelpful coping cycles and point to a need for enhanced treatment with more psychological support. The findings also highlight the continued stigma which exists for people living with skin conditions and how this may contribute to, and sustain, anger for those individuals. Future research could usefully focus on developing targeted psychosocial interventions to promote healthy emotional coping with psoriasis.

Developing a Patient Charter for People Living With Conditions, Diseases, or Traumas Involving the Skin

2019 ◽  
Vol 24 (2) ◽  
pp. 149-153
Author(s):  
Arunima Sivanand ◽  
Kathryn Andrews-Clay ◽  
Harvey Lui
Keyword(s):  
Healthcare Delivery ◽  
Healthcare Setting ◽  
Skin Condition ◽  
Hippocratic Oath ◽  
Professional Services ◽  
Emotional Impact ◽  
Media Campaigns ◽  
Social Settings ◽  
Print Materials ◽  
Skin Conditions

Background Studies have shown disparities in the perception of skin disease burden between patients and physicians, with patients often feeling that the severity, emotional impact, and social repercussions of their skin condition are underestimated. Although physician’s professional behavior is guided by documents such as the Hippocratic Oath, there are no patient-driven principles to guide healthcare interactions involving skin concerns. Objective To develop a concise and practical charter for patients based on their perceptions of unmet needs with the goals of helping patients express their needs and exercise their rights to accessing and utilizing the healthcare system for conditions, diseases, or traumas involving the skin. Methods An initial literature review examined healthcare delivery concerns of patients with skin conditions. Results were used to draft a charter that was reviewed by a Canadian patient focus group representing various skin condition advocacy groups. A revised charter was reviewed by Canadian dermatologists before being formally approved by the Canadian Skin Patient Alliance Board and endorsed by the Canadian Dermatology Association. Results The Patient Charter comprises 8 principles for providing and receiving professional services for the skin in the healthcare setting. Conclusions This Patient Charter provides direct insights into patient priorities and will be used as an educational and advocacy tool in healthcare, occupational, and social settings. The intended goal is for the Patient Charter to empower patients and to educate health professions, government, industry, and society at large. Accordingly, the charter will be disseminated through print materials, informational videos, and social media campaigns.

Social media modulation of mood and anxiety in adolescents with chronic visible skin conditions

2016 ◽  
Vol 33 (S1) ◽  
pp. S351-S351
Author(s):  
J. Gagnon ◽  
A.M. Duchemin
Keyword(s):  
Social Media ◽  
Skin Disease ◽  
Skin Diseases ◽  
Skin Condition ◽  
Negative Influence ◽  
Ambulatory Setting ◽  
Cross Sectional ◽  
Positive Effects ◽  
Skin Conditions ◽  
The Impact

Chronic skin diseases are often associated with psychiatric disorders, and psychological factors such as stress can affect the management of skin conditions. In adolescents, skin diseases can have a profound impact on body image, self-esteem and social interactions. Social media is a mode of communication increasingly used, especially among adolescents. It has been shown to have detrimental effect by the negative influence of peers through social network interactions as well as positive effects by allowing support and access to care. The posting of pictures of individuals by others in social media may make this mode of communication particularly distressful for teens with a visible skin condition; they cannot control the photos being shared with the group and are reminded of the visibility of their skin condition through these postings. To determine how social media may impact mental health and skin disease management in adolescents’ with chronic visible skin conditions, we conducted a survey of patients in the ambulatory setting. This cross-sectional study is based on an anonymous survey in teens, age 12 to 19, with various levels of chronic visible skin conditions. It explores the influences of social media on incidence and or severity of both psychiatric and dermatological health status as self-reported by patients. Acne, psoriasis, and atopic dermatitis are often associated with poor quality of life even with moderate skin disease. Taking in account the impact of social media on these pathologies is especially critical among adolescents due to their wide use and relevance in this population.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Perspective on Living With a Skin Condition and its Psychological Impact: A Survey

2018 ◽  
Vol 6 (1) ◽  
pp. 68-71 ◽  
Author(s):  
A Kanji
Keyword(s):  
Psychological Impact ◽  
Well Being ◽  
Skin Condition ◽  
Psychological Support ◽  
The United Kingdom ◽  
Survey Results ◽  
Chronic Skin ◽  
Skin Conditions ◽  
The Impact ◽  
Mental Well Being

Background: Chronic skin conditions can have a profound impact on people’s lives, both physically and psychologically, and may predispose to mental health disorders. Providing sufferers with appropriate psychological support is important. Objective: In this study, we captured the views of people suffering from a chronic skin condition who were attending the “Skin Matters” conference, held on 20 May 2017, in London. Methods: Delegates were provided with a 5-point questionnaire to complete. Questions related to the impact of their chronic skin condition on their life, the nature of any psychological support they had found helpful and whether they felt they could benefit from greater support in managing their condition. Results: 59% of the delegates completed the questionnaire. The survey results showed that skin conditions can have an impact of many areas of daily living as well as on mental well-being. The most popular source of psychological support was the Internet. The majority of survey participants felt they would benefit from increased psychological support in managing their condition. Conclusions: In the United Kingdom, there is a need to improve the availability of resources for people/patients with skin conditions in order to provide better support.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

2020 ◽  
Author(s):  
Siddaramappa J. Patil ◽  
Shruti Pande ◽  
Jyoti Matalia ◽  
Venkatraman Bhat ◽  
Minal Kekatpure ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Facial Dysmorphism ◽  
Ocular Manifestations ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Posterior Fossa Malformations ◽  
Midline Cleft

AbstractKnobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1. KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

Clinical case of lung lesions in patient with newly diagnosed systemic lupus erythematosus

2019 ◽  
Vol 1 (9) ◽  
pp. 53-57
Author(s):  
T. N. Gavva ◽  
L. V. Kuzmenkova ◽  
Yu. N. Fedulaev ◽  
T. V. Pinchuk ◽  
D. D. Kaminer ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Lung Damage ◽  
Newly Diagnosed ◽  
Systemic Lupus ◽  
Lung Lesions ◽  
Laboratory Parameters ◽  
Clinical Interest

A case of lung damage in systemic lupus erythematosus (SLE) in a 33-year-old woman is described. This case is of clinical interest due to the complexity of diagnosis due to the fact that SLE is a disease with diverse clinical manifestations involving many organs and systems, which often makes it difficult to timely recognize the onset of the disease. SLE still remains a challenge and requires special attention to the patient s history, clinical and laboratory parameters of the patient, as well as specific immunological examinations.

Studying Abroad in Nepal: Assessing Impact

2003 ◽  
Vol 9 (1) ◽  
pp. 175-188 ◽  
Author(s):  
Patricia Farrell ◽  
Murari Suvedi
Keyword(s):  
Personal Development ◽  
Intellectual Development ◽  
Longitudinal Research ◽  
Adult Learning Theory ◽  
Academic Program ◽  
The Body ◽  
Study Abroad Programs ◽  
Studying Abroad ◽  
Perceived Impact ◽  
The Impact

The purpose of this study is to analyze the reported or perceived impact of studying in Nepal on student’s academic program, personal development and intellectual development. The study draws upon adult learning theory to analyze survey instrument data, interviews, and case studies to discern the impact of the program on college students and to contribute to the body of longitudinal research on U.S. study abroad programs.

Influence of the Acetylation Type on the Incidence of Isoniazid-Induced Hepatotoxicity in Patients with Newly Diagnosed Pulmonary Tuberculosis

2020 ◽  
Vol 65 (7-8) ◽  
pp. 31-36
Author(s):  
N. M. Krasnova ◽  
N. E. Evdokimova ◽  
A. A. Egorova ◽  
O. I. Filippova ◽  
E. A. Alekseeva ◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Clinical Laboratory ◽  
Clinical Manifestations ◽  
Normal Activity ◽  
Slow Acetylators ◽  
Nucleotide Polymorphisms ◽  
Newly Diagnosed ◽  
Single Nucleotide ◽  
Tuberculosis Chemotherapy ◽  
Genetically Determined

Introduction. Liver damage can be a dangerous side effect of using isoniazid. Individual susceptibility to isoniazid in humans is dependent on the presence of N-acetyltransferase 2 allelic variants in genome. It was imperative to assess the effect of genetically determined isoniazid acetylation rate in terms of risk of developing isoniazid-induced hepatotoxicity, as well as prevention of potential hepatopathy, and improvement of tuberculosis chemotherapy safety. Aim. To study the effect of acetylation type on the incidence of isoniazid hepatotoxicity in residents of the Sakha Republic (Yakutia) with newly diagnosed pulmonary tuberculosis. Methods. The study included 112 patients with newly diagnosed pulmonary tuberculosis. Genotyping was performed using real-time polymerase chain reaction. The following single nucleotide polymorphisms were studied: rs1801280, rs1799930, rs1799931, rs1799929, rs1208, rs1041983. Hepatotoxicity was determined based on the results of clinical laboratory monitoring and using the criteria developed by the European Association for the Study of the Liver (2019). Results. Hepatotoxic reactions developed more often in slow acetylators (43.2%), compared to fast acetylators (20.7%) and intermediate acetylators (10.9%); p=0.002. Serum alanine aminotransferase activity was 5 or more times above the upper limit of normal activity in 37.8% of slow acetylators, and in 8.7% of intermediate acetylators; p=0.001. Clinical manifestations of isoniazid hepatotoxicity were observed more often in slow acetylators (29.7%), than in fast acetylators (3.4%); p=0.000. Conclusion. Slow acetylation type ought to be considered an important risk factor for developing isoniazid hepatotoxicity in patients with pulmonary tuberculosis.

A Factor Structure for Social and Personal Development Outcomes in College

NASPA Journal ◽  
1997 ◽  
Vol 34 (3) ◽  
Author(s):  
Steve Graham ◽  
Irv Cockriel
Keyword(s):  
Personal Development ◽  
College Attendance ◽  
Faculty Members ◽  
Public Concern ◽  
College Administrators ◽  
College Outcomes ◽  
Development Outcomes ◽  
Social Gain ◽  
Self Examination ◽  
The Impact

The issues of accountability and increased public concern have contributed to widespread institutional self-examination and to a greater emphasis placed on assessing the impact of college attendance. This study focuses on 36 items in the ACT College Outcomes Survey to identify specific areas of personal and social gain where students percieved colleges to have the greatest impact. Identification of these general constructs provides guidance for college administrators and faculty members on areas where the colleges can focus their attention to achieve their greatest impact.

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