[A girl with brownish grey macules on and around the lips]. / Een meisje met bruingrijze maculae op en rond de lippen.

A 14-year-old girl presented with brownish grey macules on and around the lips. Genetic testing revealed a mutation in the LKB1 tumor suppressor gene. The diagnosis made was Peutz-Jeghers syndrome, a rare inherited disease that is characterized by gastrointestinal polyps and an increased risk of cancer.

Effectiveness and safety of fumaric acid esters in children with psoriasis: a retrospective analysis of 14 patients from The Netherlands.

BACKGROUND: Fumaric acid esters (FAE) are used as an effective and safe oral treatment for plaque psoriasis in adult patients, but little is known about their efficacy and safety in children with psoriasis. OBJECTIVES: To assess the effectiveness and safety of FAE in the treatment of paediatric psoriasis. METHODS: This is a retrospective analysis of 14 paediatric patients with psoriasis (age <18 years) treated with FAE between 2004 and 2012 at several Dutch university and regional clinics. Patients were identified through databases or registries. RESULTS: The median age at the start of FAE treatment was 15 years (range 8-17 years). The median duration of FAE treatment was 10 months (range 1-80 months), and the median maintenance dosage per day was 360 mg dimethylfumarate (range 240-600 mg). Five patients (36%) achieved a complete clearance of their psoriasis, one patient (7%) had a good improvement, three patients (21%) had a partial response and five patients (36%) were nonresponders. FAE treatment was well tolerated, but two patients (14%) discontinued FAE, one with severe diarrhoea and one with flushes. Five patients (36%) had transient, slightly abnormal laboratory values of liver-function tests or leucocytes that did not necessitate FAE dosage reduction or treatment discontinuation. No serious adverse events occurred. CONCLUSIONS: In this retrospective case series FAE seemed to be an effective and safe treatment for children with psoriasis. FAE may be an attractive therapeutic alternative to the currently used systemic immunosuppressive agents for paediatric patients with psoriasis. Further studies are needed to evaluate the suitability of FAE in paediatric psoriasis.

Predictors of the post-thrombotic syndrome with non-invasive venous examinations in patients 6 weeks after a first episode of deep vein thrombosis.

BACKGROUND: Post-thrombotic syndrome (PTS) is a chronic complication of deep vein thrombosis (DVT) affecting a large number of patients. Because of its potential debilitating effects, identification of patients at high risk for the development of this syndrome is relevant, and only a few predictors are known. OBJECTIVES: To assess the incidence and potential predictors of PTS. METHODS: We prospectively followed 111 consecutive patients for 2 years after a first episode of objectively documented DVT of the leg. With non-invasive venous examinations, residual thrombosis, valvular reflux, calf muscle pump function and venous outflow resistance were assessed at 6 weeks, 3 months, 6 months, 1 year, and 2 years. The Clinical, Etiologic, Anatomic, and Pathophysiologi classification was used to record the occurrence and severity of PTS. Regression analysis with area under the receiver operating characteristic (ROC) curve was performed to identify potential predictors. RESULTS: The cumulative incidence of PTS was 46% after 3 months, and the incidence and severity did not increase further. Men appeared to be at increased risk as compared with women (risk ratio [RR] 1.4, 95% confidence interval [CI] 0.9-2.2), as were patients over 50 years as compared with younger patients (RR 1.4%, 95% CI 0.9-2.1). Patients with thrombosis localized in the proximal veins at diagnosis had an increased risk of PTS as compared with patients with distal thrombosis (RR 2.3%, 95% CI 1.0-5.6). PTS developed in 32 of 52 patients (62%) with residual thrombosis in the proximal veins 6 weeks after diagnosis, as compared with 17 of 45 patients (38%) without residual proximal thrombosis, leading to a 1.6-fold increased risk (95% CI 1.0-2.5). The presence of valvular reflux in the superficial veins was also a predictor at 6 weeks, with a 1.6-fold increased risk as compared with patients without superficial reflux (95% CI 1.1-2.3). A multivariate analysis of these predictors yielded an area under the ROC curve of 0.72 (95% CI 0.62-0.82). CONCLUSIONS: PTS develops in half of all patients within 3 months, with no further increase being seen up to 2 years of follow-up. Male sex, age over 50 years, proximal localization of the thrombus at entry, residual proximal thrombosis and superficial valvular reflux at 6 weeks seem to be the most important predictors of PTS in patients with a first episode of DVT. Duplex scanning 6 weeks after diagnosis appears to be clinically useful for the identification of patients at risk of PTS.

Bullous lesions in Henoch Schönlein Purpura as indication to start systemic prednisone.

UNLABELLED: Henoch Schönlein Purpura (HSP) is usually mild and self-limiting, but it may be accompanied by severe complications such as bullous lesions. We describe the use of systemic prednisone in two patients with bullous lesions in HSP. The first patient presented with progressive bullous lesions distributed on the limbs that evolved into painful ulcers and necrosis. These were further complicated by a secondary skin infection. He then received 1 mg/kg/day prednisone after 9 days. Patient 2, a 10-year-old boy, presented with HSP and bullous lesions and received intravenous prednisone 1 mg/kg/day within 48 h after appearance of the bullous lesions. He recovered rapidly without any complications. CONCLUSION: To reduce the severity of HSP related bullous lesions and their sequelae, we would propose starting prednisone (1 mg/kg/day) as soon as the bullae appear. In addition to prednisone, analgesics and specialist skin care for bullae should be started.

Imatinib-induced pseudoporphyria.

Imatinib, a synthetic tyrosine kinase inhibitor, is used as first-line therapy for chronic myeloid leukaemia. Imatinib treatment is associated with a variety of adverse effects, most of which are mild to moderate and generally abate after the first months of treatment. Cutaneous adverse reactions are often encountered in patients using imatinib. Pseudoporphyria is regularly associated with the use of medication, especially naproxen and other nonsteroidal anti-inflammatory drugs, but the list of culprits is expanding. We present a patient with imatinib-induced pseudoporphyria. Taking into account the rapidly growing use of imatinib, physicians should be aware of the possibility of imatinib-induced pseudoporphyria. Adequate photoprotection can improve treatment compliance.

[Blue toe syndrome; a sign of end-arterial occlusion]. / Blauwe-tenensyndroom; een teken van eindarteriële occlusie.

Three patients, two women aged 66 and 43 years, respectively, and a man aged 76 years, presented with sudden, painful, blue areas in the toes with intact peripheral pulsations. One patient had a myeloproliferative syndrome due to essential thrombocytosis, the second patient had thromboangiitis obliterans, and the third patient had a cholesterol embolism, possibly due to the use of oral anticoagulants. After treatment, one patient recovered fully and the other two improved significantly. The blue toe syndrome is the pathophysiological consequence of end-arterial occlusion and frequently the first manifestation of a systemic disorder, such as atheroembolism or vasculitis. Adequate treatment is possible in most cases. Therefore, it is very important to recognise this disorder and its possible causes so as to prevent further episodes of local symptoms and especially systemic complications.

Blue rubber bleb nevus syndrome co-existing with celiac disease.

BACKGROUND: Anaemia caused by iron deficiency is one of the most common disorders in the world. We describe a patient with iron deficiency anaemia in whom absorption was limited due to celiac disease, superimposed to chronic blood loss due to the blue rubber bleb nevus syndrome, a rare syndrome characterised by multiple cutaneous venous malformations in association with visceral lesions. CASE REPORT: A 54-year-old patient with severe iron deficiency anaemia showed marked rubbery cutaneous lesions on the body surface, extremities, under and on the left side of the tongue as well as in the stomach and duodenum. The appearance and pathological examination of the lesions were consistent with the diagnosis of blue rubber bleb nevus syndrome (BRBNS). Biopsy of the mucosa of the duodenum showed celiac disease. No association between celiac disease and BRBNS has been previously described. CONCLUSION: Combined loss of iron and malabsorption from the gastrointestinal tract can lead to severe iron deficiency. Early recognition of both diseases can result in early treatment. Patients can recover completely with iron suppletion and a gluten-free diet. Recognising typical BRBNS skin lesions would provide a potential diagnosis and could prevent unnecessary procedures or invasive surgery.

Prediction of pressure ulcer development in hospitalized patients: a tool for risk assessment.

OBJECTIVES: To identify independent predictors for development of pressure ulcers in hospitalized patients and to develop a simple prediction rule for pressure ulcer development. DESIGN: The Prevention and Pressure Ulcer Risk Score Evaluation (prePURSE) study is a prospective cohort study in which patients are followed up once a week until pressure ulcer occurrence, discharge from hospital, or length of stay over 12 weeks. Data were collected between January 1999 and June 2000. SETTING: Two large hospitals in the Netherlands. PARTICIPANTS: Adult patients admitted to the surgical, internal, neurological and geriatric wards for more than 5 days were eligible. A consecutive sample of 1536 patients was visited, 1431 (93%) of whom agreed to participate. Complete follow up data were available for 1229 (80%) patients. MAIN OUTCOME MEASURES: Occurrence of a pressure ulcer grade 2 or worse during admission to hospital. RESULTS: Independent predictors of pressure ulcers were age, weight at admission, abnormal appearance of the skin, friction and shear, and planned surgery in coming week. The area under the curve of the final prediction rule was 0.70 after bootstrapping. At a cut off score of 20, 42% of the patient weeks were identified as at risk for pressure ulcer development, thus correctly identifying 70% of the patient weeks in which a pressure ulcer occurred. CONCLUSION: A simple clinical prediction rule based on five patient characteristics may help to identify patients at increased risk for pressure ulcer development and in need of preventive measures.

[Women with pelvic complaints and atypical varicose veins, varicose veins of the vulva and insufficiency of the pelvic veins; treatment with embolisation]. / Vrouwen met onderbuikklachten en met atypische varices, vulvavarices en insufficiënte bekkenvenen; behandeling door embolisatie.

In three women, aged 34, 52 and 30 years, respectively, who suffered from chronic pelvic symptoms such as a heavy feeling and abdominal pain, atypical varicose veins were observed on the medial side of the upper thighs together with varicose veins of the vulva; these are indicators of insufficiency of the pelvic veins. The symptoms were reduced following embolisation of the insufficient pelvic veins. These symptoms are also known as the pelvic congestive syndrome. The exact correlation between insufficiency of the pelvic veins and the complaints mentioned above has not yet been determined, but it seems that in most patients the symptoms diminish or disappear following embolisation of the insufficient pelvic veins. When patients complain of chronic pelvic pain of unknown aetiology, one should look for atypical varices and vulval varices and consider pelvic-vein insufficiency as a possible cause.

Potential effect of patient-assisted teledermatology on outpatient referral rates.

We carried out a pilot study on the feasibility and accuracy of store-and-forward teledermatology based on patient-provided images and history as a triage tool for outpatient consultation. Patients referred by their general practitioner provided a history and images via the Internet. The information was reviewed by one of 12 teledermatologists and the patient then visited a different dermatologist in person within two days. Three independent dermatologists compared the remote and in-person diagnoses in random order to determine diagnostic agreement. Broader agreement was also measured, by comparing the main disease groups into which the two diagnoses fell. The teledermatologists indicated whether an in-person consultation or further investigations were necessary. There were 105 eligible patients, aged four months to 72 years, who were willing to participate. For the 96 cases included in the analysis, complete diagnostic agreement was found in 41% (n=39), partial diagnostic agreement in 10% (n=10) and no agreement in 49% (n=47). There was disease group agreement in 66% of cases (n=63). Nearly a quarter (23%) of participating patients could have safely been managed without an in-person visit to a dermatologist.

Extensive capillary malformation with a compensated coagulopathy.

A 79-year-old male patient had an extensive vascular malformation, a thrombocytopenia and a low survival half-time of the thrombocytes without a bleeding problem. Recognition of this compensated coagulopathy is important, as it may become exacerbated into a bleeding disorder during periods of stress.

Treatment of erythropoietic protoporphyria with hydroxyethylrutosides.

BACKGROUND: Assuming that flavonoids have anti-oxidative properties and may protect against abnormal skin reactions in erythropoietic protoporphyria (EPP), we investigated whether systemic treatment with hydroxyethylrutosides (2.7 g/day) could decrease skin sensitivity to blue light in a 37-year-old female patient who suffered from EPP. DESIGN AND RESULTS: Before treatment, skin exposure during 5 min to a xenon high-pressure gas discharge lamp with filter was sufficient to produce intense erythema, irritation and later swelling. After 1, 2 and 3 months of treatment, the exposure times, necessary to produce similar effects, gradually increased. This improvement coincided with an increased tolerability to sunlight. No adverse effects were observed. CONCLUSION: These results encourage the set-up of a more systematic, placebo-controlled study of the protective effects of hydroxyethylrutosides in EPP.

Venous hypertension of the hand caused by hemodialysis shunt: immunofluorescence studies of pericapillary cuffs.

BACKGROUND: Venous hypertension of the hand is an unusual complication of an arteriovenous shunt in patients receiving dialysis. OBJECTIVE: We investigated whether in venous hypertension of the hand pericapillary cuffs are present and whether they consist of fibrin and other components. METHODS: Biopsy specimens were taken from three patients with a side-to-side shunt and venous hypertension of the hand, from three patients with an end-to-side shunt without venous hypertension, and from three control subjects. The specimens were stained with antibodies against fibrinogen, fibrin, plasminogen activator inhibitor-I, factor VIII-related antigen, and collagen type IV. RESULTS: Pericapillary cuffs consisting of fibrin only were observed in patients with venous hypertension of the hand. In this fibrin network, factor VIII-related antigen and collagen type IV were also present. The finding of plasminogen activator inhibitor-I in the pericapillary cuff in the patient with the most severe signs of venous hypertension may indicate that breakdown of this fibrin cuff is impaired. CONCLUSION: Pericapillary cuffs may be of pathogenetic significance in venous hypertension of the hand.

Acitretin in the treatment of severe lichen sclerosus et atrophicus of the vulva: a double-blind, placebo-controlled study.

BACKGROUND: Promising results have been reported from treatment with oral retinoids in patients with severe lichen sclerosus et atrophicus (LSA) of the vulva. OBJECTIVE: The aim of our study was to determine the efficacy of acitretin (20 to 30 mg/day) for 16 weeks in LSA. METHODS: Seventy-eight patients were enrolled into a multicenter, randomized, placebo-controlled, double-blind trial. The primary measure of efficacy was the "responder" rate based on the assessment of characteristic clinical features of LSA of the vulva (pruritus, burning, atrophy, hyperkeratosis, and secondary features such as erosions, ulcers, edema, or lichenification) and on the extent of the lesions. RESULTS: From the 46 patients eligible for efficacy analysis, a significantly higher number of responders was observed in the acitretin-treatment group (14 of 22 patients) as compared with the placebo-treatment group (6 of 24 patients). Typical retinoid adverse reactions were observed in all patients receiving active drug. CONCLUSION: Acitretin is effective in treating women with severe LSA of the vulva.

Non-von Recklinghausen's neurofibromatosis resembling a giant pigmented nevus.

We report the case of a 30-year-old female patient with non-von Recklinghausen's neurofibromatosis. In our opinion it does not fit within a system of classification recently described. Clinically, the abnormality resembled a giant pigmented nevus; however, light- and electron microscopy findings were consistent with those of a neurofibroma. No other symptoms of classic neurofibromatosis or other diseases were present. The family history showed no evidence of neurofibromatosis. To the best of our knowledge this manifestation of non-von Recklinghausen's neurofibromatosis has not been previously described. The cause and the inheritance pattern of this variant are not clear.