Patient experiences of participation in a medical student teaching workshop.

OBJECTIVES: To investigate the motivations for and experiences of patients who actively participate in a workshop to teach medical students about chronic disease. DESIGN: Descriptive study using structured telephone or e-mail-based questionnaire exploring the views of 'patient tutors' who participate in a 'living with chronic disease' workshop. PARTICIPANTS: 'Patient tutors' with a chronic medical condition who had participated in at least one 'living with chronic disease' workshop for medical students at Oxford University Medical School. RESULTS: Patient motivating factors can be divided into two groups, direct benefits such as companionship or improved knowledge of their condition, and a teaching role involving an altruistic desire to give something back, and wanting to educate the doctors of the future. Importantly, most patients participated multiple times over a number of years despite no remuneration for their time other than expenses. CONCLUSIONS: Patients appear highly motivated to educate medical students about chronic disease, due to a combination of personal benefits and an altruistic desire to 'give something back'. This suggests that they present an invaluable and currently undermobilized resource for the future of medical education.

Hereditary vitamin D-resistant rickets presenting as alopecia.

Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147-2A>T novel mutation in the VDR gene consistent with HVDRR. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of HVDRR because appropriate treatment leads to better growth and development of the child.

Pediatric pyoderma gangrenosum with splenic and pulmonary involvement.

An 8-year-old boy presented with ulcers on the lip and limbs, scattered pustules, fever, and general malaise. Further investigation revealed splenic and pulmonary lesions. A diagnosis of pyoderma gangrenosum with splenic and pulmonary involvement was made. The authors have not found a previous report of pediatric pyoderma with splenic involvement in the literature.

Recertification in the medical specialties: a way forward.

Revalidation will have two core components: relicensure and specialist recertification. All doctors wishing to practise in the UK will require a licence issued by the General Medical Council and those on the specialist register will also be required to demonstrate that they meet the standards that apply to their medical specialty. Eight methods of evaluating performance are considered in this paper--all provide opportunities to reflect on clinical practice and to raise standards. A blueprint might be used to ensure that relicensure and specialist recertification sample different domains of clinical practice during the five-year cycle, but time and money will be required to develop standards that are valid, reliable and assessable, as well as to pilot and implement the specialty-specific tools required for assessing such standards. The Royal College of Physicians and the medical specialties must engage with this process so that specialist recertification is acceptable and achievable.

What Should General Practice Trainees Learn about Atopic Eczema?

Effective atopic eczema (AE) control not only improves quality of life but may also prevent the atopic march. The Royal College of General Practitioners' (RCGP) curriculum does not currently provide specific learning outcomes on AE management. We aimed to gain consensus on learning outcomes to inform curriculum development. A modified Delphi method was used with questionnaires distributed to gather the views of a range of health care professionals (HCPs) including general practitioners (GPs), dermatologists, dermatology nurses and parents of children with AE attending a dedicated paediatric dermatology clinic. Ninety-one questionnaires were distributed to 61 HCPs and 30 parents; 81 were returned. All agreed that learning should focus on the common clinical features, complications and management of AE and the need to appreciate its psychosocial impact. Areas of divergence included knowledge of alternative therapies. Parents felt GPs should better understand how to identify, manage and refer severe AD and recognized the value of the specialist eczema nurse. Dermatologists and parents highlighted inconsistencies in advice regarding topical steroids. This study identifies important areas for inclusion as learning outcomes on AE management in the RCGP curriculum and highlights the importance of patients and parents as a valuable resource in the development of medical education.

Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes.

Darier's disease is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells, breakdown of desmosome-keratin filaments, and abnormal keratinization. ATP2A2 has been identified as the causative gene of Darier's disease. This gene encodes the sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) isoform 2 pump, which transports Ca2+ from the cytosol into the endoplasmic reticulum lumen to maintain a low cytosolic Ca2+ concentration. Using indirect immunofluorescence and biochemical analysis, we investigated the distribution of key desmosomal proteins in normal human and Darier's disease keratinocytes under various calcium conditions. We show that inhibition of SERCA by thapsigargin in normal human keratinocytes impairs the trafficking of the desmoplakins, desmoglein, and desmocollin to the cell surface; these proteins show a diffuse cytoplasmic distribution and, together with plakoglobin, form detergent-insoluble aggregates. In Darier's disease keratinocytes, only the trafficking of desmoplakin is significantly inhibited; in these cells, desmoplakin forms insoluble aggregates when extracted with mild detergent. In contrast, the transmembrane proteins desmoglein and desmocollin are efficiently transported to the cell surface. These proteins, along with plakoglobin, remain equally distributed between detergent-soluble and -insoluble fractions. We also demonstrate an interaction between SERCA2 and desmoplakin during differentiation. Our results provide further insights into the critical role of calcium ATPases in maintaining epidermal integrity.

Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels.

ATP2C1, encoding the human secretory pathway Ca(2+)-ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey disease (HHD), an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion in the suprabasal layers of the epidermis. In this study, we used denaturing high-performance liquid chromatography to screen all 28 exons and flanking intron boundaries of ATP2C1 for mutations in 9 HHD patients. Nine different mutations were identified. Five of these mutations, including one nonsense, one deletion, two splice-site, and one missense mutation, have not been previously reported. Recently, functional analysis of a series of site-specific mutants, designed to mimic missense mutations found in ATP2C1, uncovered specific defects in Ca(2+) and/or Mn(2+) transport and protein expression in mutant hSPCA1 polypeptides. In order to investigate the molecular and physiological basis of HHD in the patient carrying missense mutation A528P, located in the putative nucleotide binding domain of the molecule, site-directed mutagenesis was employed to introduce this mutation into the wild-type ATP2C1 (hSPCA1) sequence. Functional analyses of HHD-mutant A528P demonstrated a low level of protein expression, despite normal levels of mRNA and correct targeting to the Golgi, suggesting instability or abnormal folding of the mutated hSPCA1 polypeptides. Analogous to conclusions drawn from our previous studies, these results further support the theory of haploinsufficiency as a prevalent mechanism for the dominant inheritance of HHD, by suggesting that the level of hSPCA1 in epidermal cells is critical.

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.

Hailey-Hailey disease is an autosomal dominant skin disorder characterized by suprabasal cell separation (acantholysis) of the epidermis. Mutations in ATP2C1, the gene encoding a novel, P-type Ca2+-transport ATPase, were recently found to cause Hailey-Hailey disease. In this study, we used conformation-sensitive gel electrophoresis to screen all 28 translated exons of ATP2C1 in 24 Hailey-Hailey disease families and three sporadic cases with the disorder. We identified 22 different mutations, 18 of which have not previously been reported, in 25 probands. The novel mutations comprise three nonsense, six insertion/deletion, three splice-site, and six missense mutations and are distributed throughout the ATP2C1 gene. Six mutations were found in multiple families investigated here or in our previous study. Haplotype analysis revealed that two of these are recurrent mutations that have not been inherited from a common ancestor. Comparison between genotype and phenotype in 23 families failed to yield any clear correlation between the nature of the mutation and clinical features of Hailey-Hailey disease. The extensive interfamilial and intrafamilial phenotypic variability observed suggests that modifying genes and/or environmental factors may greatly influence the clinical features of this disease.

Darier's disease: epidemiology, pathophysiology, and management.

Darier's disease is a rare cutaneous disease with an autosomal dominant mode of inheritance. Greasy papules and plaques arise on the seborrheic areas and in the flexures and almost all patients have nail abnormalities. Acantholysis and dyskeratosis are the typical histological findings. The underlying defect is a result of mutations in the ATP2A2 gene on chromosome 12q23-24 that encodes for a sarco/endoplasmic reticulum calcium ATPase (SERCA 2). Acantholysis is thought to result from desmosome breakdown. Darier's disease is an example of a dominantly inherited disease caused by haplo-insufficiency. Oral retinoids are the most effective treatment but their adverse effects are troublesome. Topical retinoids, topical corticosteroids, surgery, and laser surgery have their advocates but evidence for efficacy is sparse.

Leg ulcers and pain: a review.

Leg ulcers are a common health problem. Ulcers of any etiology including venous ulcers may be very painful, but until recently, health professionals have not been good at recognizing or managing this type of pain. It is important to clarify the type, severity, and frequency of pain and to anticipate pain at dressing changes. The measurement of pain by the use of pain scales is very useful, particularly in assessing the efficacy of an intervention. Neuropathic pain and unusually painful ulcerations are discussed in this article.

Undergraduate medical curricula: are students being trained to meet future service needs?

The General Medical Council's recommendations for medical education in Tomorrow's doctors led to a major review of undergraduate medical curricula. The changes have affected all those who teach medical students. This article discusses the background to the GMC's recommendations to define core curricula but provide choice, including options in the humanities, to 'integrate' courses and to introduce new methods of teaching and learning. The guidance in Tomorrow's doctors provides a framework that should ensure that graduates are competent and reflective practitioners, but courses must be evaluated to ensure that goals are realised. It may prove difficult to maintain high standards in medical education as numbers of students increase.

Novel ATP2A2 mutations in a large sample of individuals with Darier disease.

Darier disease (DD) is a rare autosomal dominantly inherited skin disorder caused by mutations in ATP2A2, which is expressed in both the skin and the brain and encodes for SERCA2. We have screened the coding regions of ATP2A2 in a total of 95 unrelated individuals with DD to identify the pathogenic mutations. We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel. Forty-nine (74%) are unique to an individual and 17 (26%) were found in more than one individual or overlap with previously identified variants. The results suggest that mutations in ATP2A2 may not be as family-specific as first thought. The spectrum of mutations identified will inform understanding of the pathogenesis of DD.

Evaluation of educational methods in dermatology and confidence levels: a national survey of UK medical students.

BACKGROUND: The high prevalence of skin conditions makes dermatology education an essential part of the undergraduate medical curriculum. The aim of this study was to assess the impact of different educational methods on confidence levels in dermatology among UK medical students. METHODS: A survey-based study was carried out to establish: (i) educational experience in dermatology, and (ii) confidence levels in the British Association of Dermatologists core curriculum learning outcomes. Measures of confidence were rated using a five-point Likert scale. RESULTS: Completed questionnaires were obtained from 449 final-year medical students at 14 medical schools (12.9% of 3485 final-year UK medical students). Students who received teaching from dermatologists (P ≤ 0.01), dermatology specialist nurses (P ≤ 0.001), and expert patients (P ≤ 0.001) reported higher levels of confidence. Learning in clinical settings (P ≤ 0.001) and small-group settings (P ≤ 0.001) was associated with higher confidence levels. Student-selected components in dermatology were associated with higher confidence levels (P ≤ 0.001). Confidence levels were consistently lower in dermatological emergencies compared with chronic conditions, reflecting the lack of clinical exposure. Overall, 64.9% of students were at least adequately confident in assessing, and 52.0% were similarly confident in managing patients with skin conditions. CONCLUSIONS: The findings of this study show that specialist clinical experiences and small-group learning had the most significant influence on confidence levels in dermatology. Many medical students nearing qualification were less than adequately confident in their abilities to assess and manage skin conditions, suggesting that a greater emphasis on dermatology is required.

Methotrexate: improving safety profile.

Over the past 10 years, there have been 137 patient safety incidents in England associated with methotrexate prescribing. Recent reports show that Australia has similar concerns. Using the valuable tool of an audit, we reviewed our departmental prescribing practices for 49 patients with psoriasis on methotrexate. Results highlighted poor documentation that patients were receiving appropriate information sheets detailing complications of the drug. Inconsistencies between prescribers were also noted, particularly in regards to haematological monitoring. A review of the current published work and the guidelines of other leading centres was performed and consistent, evidence-based guidelines were produced for the department. Such guidelines are essential in order to minimize the recognized complications of methotrexate. Recent studies highlight procollagen peptide III as a valuable adjunct for monitoring hepatotoxicity, while there is no longer a significant role for routine recording of cumulative dose. It would be valuable to repeat the audit to ensure a change in practice and an improved adherence to common guidelines.

What should undergraduate medical students know about psoriasis? Involving patients in curriculum development: modified Delphi technique.

OBJECTIVE: To identify the content of a psoriasis curriculum for medical students. DESIGN: Literature review and modified Delphi technique. SETTING: Primary and secondary care in Oxfordshire and Buckinghamshire. SUBJECTS: 19 dermatologists (7 teaching hospital consultants; 6 consultants in district general hospitals; 6 registrars); 2 general practitioner senior house officers working in dermatology, 5 dermatology nurses, 7 rheumatologists, 25 general practitioner tutors, and 25 patients with chronic psoriasis. MAIN OUTCOME MEASURES: Percentage of agreement by participants to items derived from literature and our existing psoriasis syllabus. RESULTS: 71 (84.5%) of 84 questionnaires were returned. A 75% level of consensus was reached on key items that focused on the common presentations of psoriasis, impact, management, and communication skills. Students should be aware of the psychosocial impact of psoriasis, examine the skin while showing sensitivity, and be able to explain psoriasis to patients in a way that enables patients to explain the condition to others. CONCLUSIONS: The panels identified the important items for a psoriasis curriculum. The views of patients were particularly helpful, and we encourage educators to involve patients with chronic diseases in developing curriculums in the future. The method and results could be generalised to curriculum development in chronic disease.

Atrophic dermatofibrosarcoma protuberans.

A 48-year-old woman presented with a 20-year history of an asymptomatic depressed atrophic plaque on the abdomen. Five years earlier a punch biopsy of the same lesion had been carried out and a diagnosis of dermatofibroma was made. She was reassured and discharged. Further consultation was sought due to extension and thickening of the lesion. Re-examination of the initial and new incisional biopsy specimens, along with histochemical staining for CD34, established the diagnosis of atrophic dermatofibrosarcoma protuberans. A wide local excision was carried out. There has been no recurrence at 9 months of follow up.