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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. [ABSTRACT FROM AUTHOR]

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. 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. 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. 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Darier's disease (keratosis follicularis) is a rare, dominantly inherited condition which is characterized by the presence of warty papules and plaques on the trunk, scalp and flexures. Diagnostic nail changes are present in most patients. Suprabasal clefting. acantholysis and dyskeratosis arc present in involved skin and the diagnosis may he confirmed by a skin biopsy. The disease never remits. Exacerbating factors such as heat, sweating and ultraviolet light should be avoided. Topical therapy with emollients, moderately potent corticosteroids and antimicrobials may provide some symptomatic relief, but have no effect on the progress of the disease. Oral retinoids are effective in most patients. Complications such as cutaneous infections, blistering and salivary gland obstruction may occur in some patients. [ABSTRACT FROM AUTHOR]

Chronic bullous dermatosis of childhood (CBDC) is an autoimmune, subepidermal bullous disease that, in the majority of patients, remits before the onset of puberty. The disease does not always pursue a benign course, however. We cared for a patient in whom the condition persisted well beyond puberty without clinical or immunologic remission. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The article presents information on allergic contact dermatitis due to furazolidone in a piglet medication. Furazolidone is a synthetic derivative of the nitrofurazone group. Reactions have been reported in workers exposed to it in animal feeds. Sensitivity to nitrofurazone in chicken and pig feeds has also been reported. Reactions to antibiotics in individual dosers for piglets have not been reported as far. Pig farmers are exposed to a wide range of antibiotics, both in feeds to promote growth and prevent infection and in oral and systemic medications. Antibiotic resistance in pathogenic E. coli is common and one would anticipate that antibiotics will need to be changed or rotated to treat the problem.

Comments on a clinical case of a patient with nodular subcutaneous sarcoid. Presentation of a 68-year-old Caucasian woman with a 6-month history of three uncomfortable nodules on the right forearm; Detection of extensive fibrosis; Relation of sarcoidosis with the occurrence of subcutaneous nodules and posterior uveitis.

Discusses the case of a 34-year-old Mexican American woman who presented with a slow-growing area of hyperpigmentation over the right scapula. Occurrence of bluish hyperpigmentation; Results of skin biopsy; Manifestations of the disease.

The phenomenon of contact urticaria is increasingly recognised. A case is reported of a 62-year-old woman with generalised pruritus, hand eczema, conjunctivitis and eyelid swelling. She had a past history of occasional episodes of eczema. She was admitted for treatment and investigation. Systemic steroids were required to control her symptoms. She was investigated for a possible contact dermatitis with a European standard battery of 24 patch tests and a cosmetic battery. These were positive for thiuram-mix and carb-mix, so she was advised to avoid rubber products.