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.

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.

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.