The neuropsychiatric phenotype in Darier disease.

BACKGROUND: Darier disease (DD) is a rare autosomal dominantly inherited skin disorder in which co-occurrence of neuropsychiatric abnormalities has been frequently reported by dermatologists. It is caused by mutations in a single gene, ATP2A2, which is expressed in the skin and brain. OBJECTIVES: To conduct the first systematic investigation of the neuropsychiatric phenotype in DD. METHODS: One hundred unrelated individuals with DD were assessed using a battery of standardized neuropsychiatric measures. Data were also obtained on a number of clinical features of DD. RESULTS: Individuals with DD were found to have high lifetime rates of mood disorders (50%), specifically major depression (30%) and bipolar disorder (4%), and suicide attempts (13%) and suicidal thoughts (31%). These were more common in DD when compared with general population data. The prevalence of epilepsy (3%) in the sample was also higher than the prevalence in the general population. There was no consistent association of specific dermatological features of DD and presence of psychiatric features. CONCLUSIONS: These findings highlight the need for clinicians to assess and recognize neuropsychiatric symptoms in DD. The results do not suggest that neuropsychiatric symptoms are simply a psychological reaction to having a skin disease, but are consistent with the pleiotropy hypothesis that mutations in the ATP2A2 gene, in addition to causing DD, confer susceptibility to neuropsychiatric features. Further research is needed to investigate genotype-phenotype correlations between the types and/or locations of pathogenic mutations within ATP2A2 and the expressed neuropsychiatric phenotypes.

Poromas and porokeratosis in a patient treated for solid-organ and haematological malignancies.

We describe a patient with previous solid-organ (testicular, oesophageal) and haematological (acute myeloid leukaemia) malignancies, in whom chronic cutaneous graft-versus-host disease was complicated by poromas and porokeratosis. Chemotherapy, total body irradiation, longstanding immunosuppression and ultraviolet radiation may all have played a part in the pathogenesis of the skin tumours.

Career choices in dermatology.

Reforms to both undergraduate and postgraduate training have resulted in limited exposure to clinical dermatology, and therefore we need to target advice and clinical attachments to the most appropriate stages of training to ensure that dermatology is considered as a career option by medical students. A questionnaire survey was undertaken to determine when and how doctors chose their career in dermatology. An electronic questionnaire was sent to 709 dermatologists (response rate 44%). Of the respondents, 49% considered dermatology after medical school attachment and 61% were influenced by the jobs they had done as a pre-registration house officer (PRHO) or senior house officer (SHO). Careers advice was lacking, with only 11% receiving it while at medical school and 29% during their PRHO/SHO years. Contact with an inspiring clinician was the most influential factor in choosing dermatology. Both medical students and junior doctors, should have opportunities to learn from and work with clinical dermatologists.

Multiple aggressive squamous skin cancers in association with nonbullous congenital ichthyosiform erythroderma.

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is one of the autosomal recessive inherited non-syndromic ichthyoses and is currently diagnosed on clinical grounds alone. Skin cancer is not a recognized complication of NBCIE. We report here two NBCIE patients who have developed multiple aggressive nonmelanoma skin cancers, predominantly cutaneous squamous cell carcinoma. NBCIE may be a risk factor for skin cancer development.

Attributes of an effective trainer: implications of the views of UK dermatology trainees.

BACKGROUND: Trainers have a critical influence on the education of specialist registrars (SpRs) and the quality of training programmes. OBJECTIVES: This study gathered the opinions of U.K. dermatology SpRs on the attributes they felt were important in a trainer. METHODS: The questionnaire was sent to all U.K. dermatology SpRs (n=216). It comprised the stem: 'A good trainer (supervising consultant or educational supervisor)', followed by statements such as '...has realistic expectations of the trainee'. Respondents ranked each statement in importance using a five-point Likert scale. A free-text box was also included for respondents to list the least desirable attributes. RESULTS: Completed questionnaires were received from 146 trainees (68%). Four attributes were identified as most important: having an encouraging and supportive attitude, using feedback to identify specific areas for attention, being approachable, and being willing to answer questions. Least important attributes included openness to criticism of teaching skills, auditing of own clinical practice, sense of humour and place of work (district general vs. teaching hospital). Eighty-seven respondents indicated the least desirable attributes of a trainer. Most comments related to being uninterested in training, being unapproachable or unavailable, or undermining the trainee and using unconstructive criticism. CONCLUSIONS: The results highlight the importance to trainees of constructive feedback, and dialogue with trainers. Some of the stated undesirable characteristics in a trainer appeared to derive from personal experience. This is of serious concern, and ways in which the trainer-trainee relationship can be improved are discussed.

Assessment in undergraduate dermatology.

Assessment should be considered at an early stage in curriculum planning and must strive for the best balance between validity (testing what is important) and reliability (providing inferences about the student's competence). The primary purpose of summative assessment in clinical medicine is to determine whether the candidate is competent. Dermatologists should use a range of summative assessment techniques that are appropriate for testing the curricular outcomes. These will include tests of application of knowledge and of clinical skills. All students should also receive regular formative assessment to allow them to measure their progress, but this is not used for summative decisions. We review the key issues surrounding assessment and some specific techniques that might be appropriate for testing learning outcomes in undergraduate dermatology, either in the context of a clinical placement or in an integrated assessment involving a number of specialties or systems.

Calcium pumps and keratinocytes: lessons from Darier's disease and Hailey-Hailey disease.

Darier's disease and Hailey-Hailey disease are autosomal dominantly inherited skin disorders in which desmosomal adhesion between keratinocytes is abnormal. ATP2A2 and ATP2C1 have been identified as the causative genes for Darier's disease and Hailey-Hailey disease, respectively. ATP2A2 encodes the sarco(endo)plasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2) pump, while ATP2C1 encodes a secretory pathway Ca(2+)/Mn(2+)-ATPase (SPCA1) found in the Golgi apparatus. We review recent work into the function of these pumps in human keratinocytes and discuss how mutations in these genes might cause these diseases by altering the formation or stability of desmosomes.

Learning dermatology.

Students should be involved in curriculum planning and encouraged to formulate their own learning outcomes. Adult learners appreciate opportunities to learn from real or simulated experiences that are applicable to real-life situations. Contact with patients is essential to help students to develop empathy and communication skills and patients with chronic skin conditions such as psoriasis can make an active contribution to the education of students. Students learning dermatology use both pattern- recognition and analytical processes, but pattern recognition develops only with repetition and it is not realistic to expect students to acquire many diagnostic skills. Instead teachers should provide students with a framework that will enable them to analyse skin conditions, to understand the relevance of what is taught and to apply their learning in the future. All medical graduates should be able to describe the skin and record their findings each time they clerk a patient.

Teaching dermatology.

How might teachers optimize the learning of dermatology? Learning outcomes derived from the curriculum will clarify the requirements of dermatology courses for teachers as well as learners. Clinical teachers must learn to exploit opportunities for teaching, use time effectively, target teaching at the right level and evaluate what the students have learnt. Students should have opportunities to participate actively in clinics, under appropriate supervision, as well as to observe clinicians working with patients. Although new technologies may complement clinical teaching, these are no substitute for clinical experience.

Curriculum planning in dermatology.

Curriculum planners should familiarize themselves with the recommendations for medical education in the UK made by the Quality Assurance Agency and the General Medical Council. The dermatology curriculum must maximize undergraduate learning experiences in dermatology, but lengthy curricula lead to rote learning and do not promote understanding. The core dermatology curricula might be built around the clinical problems graduates are likely to encounter as preregistration house-officers, but should also prepare students for their future careers in whatever specialty. Graduates should know when it might be appropriate to refer a patient to a dermatologist. Learning experiences in dermatology might be threaded into the curriculum at a number of stages and student-selected components might provide opportunities to explore dermatological topics in depth. The views of a broad constituency will give the core curriculum validity and consensus might be reached with the Delphi technique or by using multidisciplinary groups. Temptations to overload the curriculum should be resisted. Medical curricula should give students time to experience the art of medicine as well as to explore the science behind clinical practice.

Solar urticaria in an infant.

A 2-year-old girl presented with a history of an erythematous rash which occurred immediately after exposure to sunlight and had been a problem since birth. Extensive laboratory investigations to exclude genophotodermatoses, photosensitivity secondary to metabolic disorders and photoaggravated dermatoses were negative. Monochromator irradiation phototesting demonstrated immediate erythematous flares to all ultraviolet B (UVB), UVA and visible wavelengths up to 500 nm. A diagnosis of solar urticaria was made and she responded to loratidine 10 mg daily. We believe this is the first report of solar urticaria, confirmed by phototesting with a monochromator so early in life.

Handicap in Darier's disease and Hailey-Hailey disease.

One hundred and thirty-seven patients with Darier's disease and 66 patients with Hailey-Hailey disease completed the Dermatology Life Quality Index (DLQI). The average DLQI score for Darier's disease was 5.89 (19.6% of the maximum score), median = 4, quartiles: 1.9. The average DLQI score for Hailey-Hailey disease was 6.06 (20.2% of the maximum score), median = 5, quartiles: 2.9. The DLQI score did not correlate with the physician's assessment of clinical severity in both diseases, thus emphasizing the importance of remembering the potential for handicap even in patients with disease that seems to be mild. The domains of the questionnaire with the highest mean scores in both diseases were for questions relating to symptoms and feelings. Domains relating to personal relationships and work obtained low mean scores even in severe disease. It is encouraging that most patients with Darier's disease and Hailey-Hailey disease maintain good relationships at work and home and seem to be able to adapt to their skin disease.

Cutaneous manifestations of systemic lupus erythematosus.

We have assessed the cutaneous signs in 73 patients with systemic lupus erythematosus (SLE), seen during a 5-year period in an English hospital. Most previous information about the cutaneous manifestations of SLE has been obtained from studies performed in the U.S.A. We classified lesions as specific cutaneous and mucosal LE (acute, subacute and chronic) or non-specific LE-related, e.g. photosensitivity, urticaria, erythema, Raynaud's phenomenon or vasculitis. Acute cutaneous LE lesions included a butterfly rash with erythematous macules, telangiectasia or papulosquamous lesions, seen in 37 patients (51%) and facial oedema seen in four patients (5%). Five patients (7%) had psoriasiform subacute cutaneous LE. Chronic cutaneous LE was common: 18 patients (25%) had chronic discoid lesions (DLE) and, in 12 (15%), these had preceded systemic disease. One patient had facial lupus profundus. Ten patients (14%) had scarring alopecia secondary to DLE. Fifteen patients (20.5%) had chronic chilblain lupus. Twenty-three patients (31.5%) had a history of mouth ulceration. Of these, 11 (15%) gave a history of ulcers at the onset of their disease. Three (4%) had erythema and superficial ulceration of the palate, not typical of aphthous ulcers, and three (4%) had chronic buccal plaques. Cheilitis due to DLE was seen in three (4%), episcleritis in three (4%), five (7%) had nasal disease, six (8%) bullous skin eruptions, one 'the bullous eruption of SLE', four bullae associated with cutaneous vasculitis, and one bullae associated with ultraviolet radiation. Forty-six (63%) observed photosensitivity. A non-scarring alopecia occurred in 29 (40%). Vascular phenomena were common: three patients (4%) had chronic palmar erythema, Raynaud's phenomenon occurred in 44 patients (60%), chronic urticaria, worsened by sun exposure, was noted by 32 (44%) (in whom the lesions often lasted more than 36 h), eight (11%) had cutaneous vasculitis and three (4%) livedo reticularis. Skin changes play a prominent part in SLE and may provide helpful diagnostic information. In this British population, chilblains and urticaria were particularly common. Lesions of subacute cutaneous LE were relatively unusual in this group of patients with SLE.

Topical isotretinoin in Darier's disease.

Topical 0.05% isotretinoin (Isotrex gel) was used to treat a test patch of skin in 11 patients with Darier's disease. Hyperkeratosis and papules improved in six patients after treatment for 3 months. Erythema, burning and irritation were common adverse effects, and these were severe in three patients, one of whom stopped treatment. Patients with mild Darier's disease may find topical isotretinoin helpful, but it is likely that most patients with widespread disease will require treatment with systemic retinoids.

Vasculitis in a fixed drug eruption due to paracetamol.

A 48-year-old man presented with a history of recurrent erythematous lesions on the trunk and limbs. Examination suggested a fixed drug eruption and this was confirmed by oral challenge with paracetamol. The histology was unusual as it showed a leucocytoclastic vasculitis. Patients may have difficulty avoiding the offending drug because many drugs bought over the counter have similar names but different constituents. In addition, it may be difficult to persuade the patient that a specific drug is responsible for their skin problem.