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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]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Studies the cause of Hailey-Hailey disease. Mutations in ATP2C1 encoding a novel calcium pump; Description of Hailey-Hailey disease; Identification of the gene ATP2C1; Defective gene in Darier's disease.

Darier's disease is an uncommon inherited cutaneous disease which is difficult to manage, especially in adolescence. The warty keratotic papules irritate, smell and look unsightly. Histologically, the condition is characterized by the presence of focal acantholytic dyskeratosis. Treatment is unsatisfactory, particularly in patients with erosive flexural disease, but retinoids reduce the hyperkeratosis. Now the mutation causing Darier's disease has been identified, there is a real possibility of more effective treatment in the future. [ABSTRACT FROM AUTHOR]

Darier's disease (DD) is a rare, dominantly inherited disorder that affects the skin producing a variety of types of lesion. Close examination of lesional DD skin shows the presence of abnormal keratinization (epidermal differentiation) and acantholysis (loss of cohesion) of keratinocytes. A number of clinical studies have described the co-occurrence of various neurological and psychiatric symptoms with DD, including mood disorders, epilepsy, mental retardation and a slowly progressive encephalopathy. A single locus for DD has been mapped to chromosome 12q23-q24.1, and a variety of missense, nonsense, frameshift and splicing mutations in the ATP2A2 gene have been described recently in families with DD. This gene encodes the sarcoplasmic/endoplasmic reticulum calcium-pumping ATPase SERCA2, which has a central role in intra-cellular calcium signalling. In this study, we performed mutation analysis on ATP2A2 in 19 unrelated DD patients, of whom 10 had neuropsychiatric phenotypes. We identified and verified 17 novel mutations predicting conservative and non-conservative amino acid changes, potential premature translation terminations and potential altered splicing. Our findings confirm that mutations in ATP2A2 are associated with DD. In neuropsychiatric cases, there was a non-random clustering of mutations in the 3" end of the gene (P& = 0.01), and a predominance of the missense type (70% versus 38% in DD patients). This supports the hypothesis that the DD gene has pleiotropic effects in brain and that mutations in SERCA2 are implicated in the pathogenesis of neuropsychiatric disorders. [ABSTRACT FROM AUTHOR]

Analyzes the novel adenosine triphosphate2A2 mutations in patients with Darier's disease using spectrum analysis. Separation of suprabasal epidermal cells from abnormal keratinization; Factors that lead to the loss of desmosomal attachment and perinuclear aggregations of keratin filaments.

Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2+-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes. Thirteen mutations were identified, including frameshift deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense mutations in functional domains. Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca2+-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis. [ABSTRACT FROM AUTHOR]

The article provides information on Darier's disease that is caused due to the disorder of keratins and proteases. Patients suffering from Darier's disease and having minor skin abnormalities may have unfavorable social repercussions. The disease is distinguished by the presence of warty, brown papules and plaques in a seborrhoeic distribution, flexural lesions, which may be hypertrophic, palmar pits and a nail dystrophy including v-shaped notches with red or white longitudinal bands.

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]

Abstract. We have studied the effect of increasing freeze times on the normal pig's ear and on a variety of lesions of the human ear. The clinical and laboratory data suggest that cartilage necrosis secondary to cryosurgery is a dose-related phenomenon and is uncommon with the freeze times used in clinical practice. Cryosurgery is an effective and cosmetically acceptable treatment for superficial skin lesions of the ear. [ABSTRACT FROM AUTHOR]

Fifty-eight individuals with Halley-Halley disease were studied to delineate the clinical features, response to treatment and prognosis. The disease generally presented between the second and fourth decades, but the morphology of lesions was varied and a delay in diagnosis was common. Nail changes have not been documented in previous studies of Hailey-Hailey disease, but asymptomatic longitudinal white bands were present in the fingernails in 71% of 38 patients examined and are a helpful physical sign. The disease is predominantly flexural. Friction and heat or sweating exacerbate the lesions and pain may limit physical activities. The prognosis was assessed in 27 patients with longstanding disease and the long-term outlook is generally good. Seventeen patients had improved and the disease was static in seven patients. Three patients deteriorated with age. Topical corticosteroids with or without added antibiotics were an effective treatment. [ABSTRACT FROM AUTHOR]

The immunocytochemical distribution of desmosomal components was determined in involved skin from eight patients with Darier's disease, five patients with Hailey-Hailey disease and two patients with transient acantholytic dermatosis as well as skin from four normal controls. Sections were stained using monoclonal antibodies to the desmosomal proteins dpi and dp2 (desmoplakins) and the desmosomal glycoproteins dgl (desmoglcin), and dg2 and dg1 (desmoglein). There was normal expression of desmosomal proteins and glycoproteins at the periphery of the keratinocytes in the perilesional skin in Darier's disease, in Hailey-Hailey disease and in transient acantholytic dermatosis. In the lesional skin there was reduced expression of desmosomal proteins and glycoproteins in the basaloid ‘buds’ at the base of the lesions, but there was bright diffuse staining of the acantholytic cells. Focal intracellular staining was detected within many of the acantholytic keratinocytes in Hailey- Hailey disease and within some of these cells in Darier's disease. Suction blisters were used to induce fresh acantholysis in lesional skin in Darier's disease and clinically uninvolved skin in Hailey-Hailey disease. The results indicated that acantholysis precedes the development of intracellular staining. Although there are immunopathological abnormalities in the distribution of desmosomal proteins and glycoproteins in both Darier's disease and Hailey-Hailey disease, the changes are probably secondary to internalization of desmosomal components with breakdown and redistribution of antigens rather than a primary deficiency in the synthesis of these proteins. Focal Internalization was more widespread in Hailey-Hailey disease than in Darier's disease and the differences in the distribution of desmosomal components in these diseases confirm that they are distinct entities. [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]

Eighty-six patients with chronic cutaneous lupus erythematosus were examined. Twelve of these also suffered from systemic lupus erythematosus. The mean duration of the disease was 15.1 years. Fifty-seven percent of patients (49/86) had scarring of some kind producing destruction and deformity; 47% (41/86) had scarring of glabrous surfaces and 35% (30/86) had scarring alopecia; 35% (30/86) were also suffering from pigmentary disturbance. The details and treatment of these and other non-scarring sequelae are discussed. [ABSTRACT FROM PUBLISHER]

Darier's disease is a rare autosomal dominantly inherited keratosis. This is an account of one family in which there is co-occurrence of major affective disorder and Darier's disease in five members and absence of both disorders in five members. The pedigree is consistent with genetic linkage between the Darier gene and a major autosomal dominant susceptibility locus for major affective disorder. When the Darier's disease gene has been mapped, its chromosomal location will be an interesting candidate locus for linkage studies of major affective disorder. [ABSTRACT FROM AUTHOR]

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. [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]

The article discusses Darier's disease, an inherited condition that affects skin, nails and mucosae. One manifestation of the disease is skin lesion, which usually appeared between 6 and 20 years of age. A common complication of the disease is secondary infection of skin lesions. The mutations responsible for Darier's disease have been located in the ATP2A2 gene on chromosome 12q23.

We treated seven patients with discoid lupus erythematosus (DLE) with Vitamin E in an oral dose of 400 mg three times per day for 12 weeks. All other systemic and topical treatments were discontinued 1 month before initiation of the trial. The drug was then stopped and follow-up continued for at least another 4 weeks. No patient showed clearing of lesions. The trial was conducted during summer, when DLE is likely to be most active. There was no deterioration in any patient. No side effects were noted. [ABSTRACT FROM PUBLISHER]

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]

Offers dermatology-related news briefs as of March 2004. Teaching Dermatology course relevant to dermatologists involved with undergraduate teaching or post-graduate training in Great Britain; Second annual meeting of the Facial and Aesthetic Conference and Exhibition in London, England; Opening of the competition for the Maison G. de Navarre Young Scientist Prize, a prize granted to cosmetic scientist to attend the International Federation of the Society of Cosmetic Chemists Congress in Orlando, Florida.

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.

This article presents information related to sarcoidosis. Sarcoidosis is often a multisystem disease affecting heart, eyes, kidneys, lung, skin, and other organs. There are several types of skin lesions. In the absence of one of these cutaneous forms, subcutaneous nodules are very rare. There have been four recent case reports of subcutaneous nodules occurring as the only skin manifestation of sarcoidosis in Negro patients. In contrast, in lesions of cutaneous sarcoidosis, the epithelioid cell granulomas contain only a few, if any, giant cells.

The article focuses on a medical case involving a 3-year history of a slow-growing area of hyperpigmentation over the right scapula in a patient. On examination, the patient was found to have a macular area of bluish hyperpigmentation with dulling to pinprick in the same area. Stains for amyloid and acid fast bacilli were negative. These findings were consistent with a nevus of Ito. Nevus of ito may appear rarely in adults. The nevus cells are often observed in close relationship to the sheath cells of peripheral nerves.

An obituary for geriatrician and creator of the first purpose built geriatric medical unit in Great Britain, George Fowler Adams is presented.

The article discusses studies related to Hailey-Hailey disease and atopy patch test, published in the March 2005 issue of the journal Acta Dermato-Venereologica. Measures of the extent or severity of skin disease can be documented relatively objectively, but a patient-orientated, quality of life measurement that indicates how an individual patient is affected by the skin condition will complement clinical judgements of disease severity. Disease or dermatology specific measures of health-related quality of life may be supplemented by general health measures. One of the studies demonstratesthat the atopy patch test to house dust mite allergen is highly reproducible similar to other well-known contact allergens in adults without active eczema. This also goes for other environmental allergens although the numbers tested were few. They also confirm that the back is the site for patch testing as for traditional contact allergens. Thus, it seems the house dust mite allergen may be close to routine use in our daily clinics, provided a commercial, stable production can be established.

Presents a letter to the editor related to lentigo maligna.

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.