cLFM-Qol: A specific quality of life measurement tool for children from 11 to 15 years with low-flow malformations.

BACKGROUND: Low-flow malformations (LFMs) are rare diseases with a significant impact on health-related quality of life (HRQoL), especially in children. No disease-specific questionnaire is available for children with LFMs. OBJECTIVE: To develop and validate a specific HRQoL questionnaire for children from 11 to 15 years old suffering from LFMs. METHODS: A preliminary questionnaire based on a verbatim from focus groups was created and sent to children from 11 to 15 years old suffering from LFMs, together with a dermatology-specific and a generic HRQoL questionnaire (cDLQI and EQ-5D-Y). RESULTS: A total of 75 from 201 included children responded to the questionnaires. The final version of the questionnaire (cLFM-QoL) included 15 questions and was not divisible into subscales. It demonstrated excellent internal consistency (cronbach 0.89), convergent validity and readability (SMOG 6.04). cLFM-QoL mean score (± SD) was 12.9/45 (8.03) for all grades of severity, for mild 8.22/45 (7.5), moderate 14.03/45 (8.35), severe 12.35/45 (6.59) or very severe patients 20.7/45 (3.39) (p 0.006). CONCLUSION: cLFM-QoL is a validated short and easy to use specific questionnaire with excellent psychometric capacities. It will be suitable for any children aged 11-15 with LFMs, in daily practice or clinical trials.

Childhood pilomatricomas: Associated anomalies.

Pilomatricoma is a common benign tumor in children. We present a review of the literature with the aim of helping clinicians manage these patients. A detailed review of the literature was performed in the PubMed database using an exhaustive list of Medical Subject Heading words. One thousand four hundred fifty-eight children were described in retrospective series and case reports. An associated disease was found in 32 children (2.2%), most of whom had several pilomatricomas (n = 23); 9 had a single lesion. Based on this literature review, we recommend reassuring the family and then conducting a detailed interview regarding past medical and family history and a thorough clinical examination for signs of Turner syndrome, constitutional mismatch repair deficiency, Kabuki syndrome, Steiner's myotonic dystrophy, or Gardner syndrome. Regular long-term clinical follow-up is recommended. Specific paraclinical examinations should be performed only in cases of other clinical anomalies or a positive family history. Pilomatricoma requires management because it may be associated with other potentially serious diseases, especially when multiple lesions are present.

Skin Patterns Associated with Upper Airway Infantile Haemangiomas: A Retrospective Multicentre Study.

The aim of this study was to define the skin patterns at high risk for upper airway infantile haemangioma. A retrospective multicentre French observational study was conducted between January 2006 and January 2015 and all confirmed airway haemangioma were included. Thirty-eight patients with airway haemangioma from 9 centres were included. Thirty-one patients had a cutaneous or mucosal haemangioma: 21 with a location considered at high risk for airway haemangioma (large segmental mandibular haemangioma), 4 with a very mild facial involvement (lower lip or S1 (frontotemporal segment according to Haggstrom and Frieden)) and 6 with either lesions of the neck or body, or association of both. We report here the largest cohort of airway haemangioma. A third of patients do not completely fit with the definition of the high-risk area of airway haemangioma. Segmental lower lip and neck involvement also seem to be very suggestive areas. Clinicians must be able to recognize these areas.

Burden of inherited ichthyosis: a French national survey.

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires were completed and returned (response ratio: 29% for children and 71% for adults). A negative impact of ichthyosis was obvious in terms of domestic life (skin care, housework, clothing, etc.), educational/professional lives (rejections by other children, workplace discrimination, absenteeism, etc) and for leisures/sports activities. The patient's economical resources were also heavily impacted by ichthyosis with important out-of-pocket expenses.

IQoL-32: a new ichthyosis-specific measure of quality of life.

BACKGROUND: Inherited ichthyoses are associated with impaired quality of life (QoL). OBJECTIVES: The aim of this study was to create and validate a QoL questionnaire specifically dedicated to patients with ichthyosis. METHODS: A prequestionnaire was drawn after selecting items from a verbatim transcript. It was then subjected to a cognitive debriefing. During the validation step, this questionnaire was sent to patients with the Dermatology Life Quality Index, Short Form-12 health-related questionnaire, and severity scores (global severity: mild/moderate/severe/very severe; clinical severity evaluated by 6 visual analog scales). A shortened version of the questionnaire was designed. The validity of the tool was confirmed: for its structure and 1-dimensional nature (Cronbach α), convergent (Spearman correlation) and discriminating (Tukey test) validity; α risk was fixed at 5%. RESULTS: The initial questionnaire included 60 items. During the validation phase, 59 subjects were tested. The shortened version included 32 items (IQoL-32) and 7 dimensions (Cronbach α: 0.94). The higher the score, the more impacted the QoL. IQoL-32 was positively correlated to Dermatology Life Quality Index (P < .0001) and negatively to Short Form-12 health-related questionnaire (P < .0001). IQoL-32 was highly correlated to clinical severity: overall analysis (Spearman ranking: 0.72; P < .0001) or analysis per dimension (highest correlations: discomfort, pain, interpersonal relations). IQoL-32 demonstrated a higher correlation with visual analog scale compared with Dermatology Life Quality Index and Short Form-12 health-related questionnaire. It also showed a good discriminating power (P < .0001) according to overall severity levels. LIMITATIONS: Only patients residing in France were included. CONCLUSION: IQoL-32 is a specific and validated questionnaire for inherited ichthyosis. It will be very useful for patient care and research.

Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study.

BACKGROUND: Patients with Hailey-Hailey and Darier diseases present with disabling inflammatory lesions located in large skin folds, which are often exacerbated or induced by sweating. Quality of life is highly impaired because of pain and recurrent skin infections. An improvement in skin lesions after botulinum toxin A injections has previously been reported in some patients but no prospective interventional studies are available. The aim of this open-label, 6-month, interventional pilot study (NCT02782702) was to evaluate the effectiveness and safety of botulinum toxin A for patients with moderate to very severe skin lesions located in folds. RESULTS: Thirty patients (26 Hailey-Hailey/4 Darier) were included. Botulinum toxin A proved effective within the first month in two-thirds of patients, taking all study parameters (itchiness, cutaneous pain, sweating and odour, infections, psychosocial impairment and quality of life) into account and persisted during the 6-month follow-up period. No patient was classed as a BtxA non-responder, but 11 (37%) Hailey-Hailey patients (the most severe ones), experienced a relapse during the study. No serious side effects were reported. Mild transient clear fluid discharge at the site of the injections was reported for 27% of patients. CONCLUSIONS: Botulinic toxin seems to be an effective and safe treatment for Hailey-Hailey and Darier diseases. Nevertheless, it may prove insufficient for the severest of Hailey-Hailey cases and could be considered as supplementary to other conventional treatments. Further studies are required to confirm our results on larger Darier cohorts.

Why is it so difficult for GPs to effectively manage patients with rare skin diseases?

BACKGROUND: Rare diseases are defined by a prevalence of less than one out of 2000 persons. In clinical practice, their management is difficult, due to their diversity, their complexity and a lack of adapted physician training. OBJECTIVE: The aims of this study were to identify rare skin diseases in a reference center, to describe the difficulties encountered by general practitioners (GPs) in management of these uncommon cases, and to pinpoint the characteristics of the GPs having the most problems. METHODS: A survey conducted from March to June 2017 involving GPs at least one of whose rare skin disease patients was being monitored in a reference center. RESULTS: All in all, 96/195 (49.2%) of the GPs contacted completed the questionnaire, and virtually all of them (95%) reported five main categories of difficulties: giving a diagnosis, monitoring treatment, coordinating care, providing support, and ensuring management of intercurrent pathologies. The most widely reported difficulties were related to diagnosis (88.5%) and care coordination (76%). The GPs most in need of assistance were those practicing in rural areas (11 times more likely to experience difficulties), those with over 10 years of experience (up to 9.8 times more risk) and those not considering their role in the management of patients with rare diseases as instrumental (2.28 times more risk). CONCLUSIONS: This study brought to light the difficulties encountered by GPs in management of patients with rare skin diseases. We identified those the most in need of assistance, who are to be targeted for actions aimed at improving the care and treatment of patients suffering from rare skin diseases.

Alitretinoin reduces erythema in inherited ichthyosis.

BACKGROUND: Acitretin is the main retinoid used to treat severe inherited ichthyosis. Alternatives may be considered if it results ineffective or there are side-effects, or for women of childbearing age. Our objective is evaluation of the effects and tolerance of alitretinoin. An observational retrospective multicentric study was designed to analyse patients with inherited ichthyosis treated by alitretinoin. RESULTS: A total of 13 patients were included, 11 of whom were receiving acitretin at inclusion. The main reason for switching to alitretinoin was a desire for pregnancy, but also because of side-effects or unsatisfactory efficacy. Starting dose was 10 mg/day, increased to 20 or 30 mg/day. Alitretinoin seemed to be more effective than acitretin at reducing erythema, but was less effective at reducing scaling or hyperkeratosis. Global efficacy was considered low for two patients, moderate for nine, and high for two. Treatment was well-tolerated, except for one patient who presented with benign intracranial hypertension leading to discontinuation of treatment. CONCLUSIONS: Alitretinoin may be suitable for hereditary ichthyosis with prominent erythema, especially for women of childbearing age.

Efficacy and safety of desloratadine in adults with chronic idiopathic urticaria: a randomized, double-blind, placebo-controlled, multicenter trial.

BACKGROUND AND OBJECTIVE: Chronic idiopathic urticaria (CIU), a condition characterized by pruritus and wheals, can cause patients physical and psychological distress. Desloratadine, a second-generation histamine H(1) receptor antagonist (antihistamine), is a first-line treatment option for CIU. The objective of this study was to evaluate the efficacy and safety of once-daily desloratadine 5mg versus placebo for the treatment of CIU symptoms and disease severity in adults. METHODS: This was a randomized, placebo-controlled, multicenter trial of 137 adult patients with active CIU who received oral once-daily desloratadine 5mg or placebo for 6 weeks. Outcome measures included pruritus severity, number of wheals, and the size of the largest wheal. Patients assessed signs and symptoms on a four-point scale twice daily. The overall therapeutic response at the end of the 6-week treatment period was also rated. RESULTS: Desloratadine treatment was associated with significant improvements compared with placebo in pruritus scores and in the size of the largest wheals as early as day 1. These improvements continued through to the end of the trial. The mean score for the number of wheals was significantly lower in the desloratadine group than in the placebo group on days 14 and 42 (p < or = 0.016). Overall improvement in CIU (complete, marked, or moderate therapeutic response) was also greater at the end of the study in the desloratadine group compared with placebo (p < 0.001). Adverse events occurred with similar frequency among desloratadine- and placebo-treated patients. CONCLUSION: Once-daily desloratadine 5mg is well tolerated and superior to placebo in reducing pruritus and wheals associated with CIU. Desloratadine provided rapid and sustained relief of CIU symptoms as early as after the first dose and maintained this effect until the end of the 6-week treatment period.

Efficacy of an interventional educational programme in mitigating post-traumatic stress in parents who have witnessed a febrile seizure: a pilot before-and-after study.

OBJECTIVES: To measure post-traumatic stress in parents who have witnessed their child's first simple febrile seizure and to assess the impact of workshops where information is dispensed, proper reactions are demonstrated and dialogue is encouraged on the mitigation of parental stress. DESIGN: A pilot before-and-after study, with control group, using self-reported measures from the Impact of Event Scale-Revised. SETTING: Data from two French participating centres. PARTICIPANTS: A total of 50 parents who witnessed their child's first simple febrile seizure. INTERVENTION: Parents selected themselves into either group 1: attending a workshop (intervention group), or group 2: no further management (control group). PRIMARY AND SECONDARY OUTCOME MEASURES: (1) Parental post-traumatic stress was assessed by the Impact of Event Scale-Revised a minimum of 4 weeks after the seizure (before any workshop if applicable). A high risk of developing post-traumatic stress disorder was indicated by a score ≥33. (2) To assess the efficacy of workshops on the mitigation of parental stress, all parents self-completed the Impact of Event Scale-Revised a second time at a minimum of 10 weeks after the seizure (after any workshop if applicable). RESULTS: Four weeks after the seizure, 76% of the total parents presented an Impact of Event Scale-Revised score ≥33. At 10 weeks after the seizure, the scores were 18.1 points lower (95% CI 11.66 to 24.61, P<0.0001) in group 1 versus only 5.51 points lower (95% CI 2.76 to 8.27, P=0.0003) in group 2 (intragroup comparison), and were significantly lower in group 1 compared with group 2 (intergroup comparison), P=0.02. CONCLUSIONS: Parents who have witnessed their child's first simple febrile seizure are at high risk of developing post-traumatic stress disorder 4 weeks after the seizure. Our innovative workshops are associated with a significant mitigation of the parental post-traumatic stress.

Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center.

BACKGROUND: To date, few studies have investigated serum vitamin D status in patients with inherited ichthyosis. The aim of this study was to determine the prevalence of vitamin D deficiency (defined as serum level <10 ng/mL) in a French cohort of patients and to identify associated risk factors. METHODS: This was a prospective observational study performed in a hospital reference center with expertise for rare skin diseases. Patients' clinical characteristics were recorded. Serum concentration of 25-hydroxyvitamin D and parathyroid hormone were determined. For patients with vitamin D deficiency, serum calcium, serum phosphorus and bone mineral density were also investigated. Comparisons between groups (25-hydroxyvitamin D <10 ng/mL versus ≥10 ng/mL) were conducted by univariate and multivariate logistic regression. RESULTS: Of the 53 included patients, 47 (88.7%) had serum 25-hydroxyvitamin D below the optimal level of 30 ng/mL: 18 (34%) had vitamin D sufficiency, 14 (26.4%) had vitamin D insufficiency, and 15 (28.3%) had vitamin D deficiency. A negative linear correlation was found between 25-hydroxyvitamin D and parathyroid hormone levels for the whole study population. Serum calcium and phosphorus levels were normal for the 15 patients with vitamin D deficiency. Bone mineral density was investigated for 11 of these latter 15 patients, and six of them had osteopenia. Winter/spring seasons of vitamin D measurement, severity of ichthyosis, and phototypes IV-VI were identified as independent risk factors for vitamin D deficiency. CONCLUSIONS: Clinicians should be aware of the risk of vitamin D deficiency in the management of patients with inherited ichthyosis, especially in winter and spring, and in case of dark skin or severe disease.

Prevalence of inherited ichthyosis in France: a study using capture-recapture method.

BACKGROUND: Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. METHODS: Capture - recapture method was used for this study. According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients. The study was conducted in 5 areas during a closed period. RESULTS: The prevalence was estimated at 13.3 per million people (/M) (CI95%, [10.9 - 17.6]). With regard to autosomal recessive congenital ichthyosis, the prevalence was estimated at 7/M (CI 95% [5.7 - 9.2]), with a prevalence of lamellar ichthyosis and congenital ichthyosiform erythroderma of 4.5/M (CI 95% [3.7 - 5.9]) and 1.9/M (CI 95% [1.6 - 2.6]), respectively. Prevalence of keratinopathic forms was estimated at 1.1/M (CI 95% [0.9 - 1.5]). Prevalence of syndromic forms (all clinical forms together) was estimated at 1.9/M (CI 95% [1.6 - 2.6]). CONCLUSIONS: Our results constitute a crucial basis to properly size the necessary health measures that are required to improve patient care and design further clinical studies.

Desloratadine for the treatment of cypress pollen-induced allergic rhinitis.

BACKGROUND: Few studies have been conducted to assess treatment options for patients with sensitivities to cypress pollens, important triggers of allergic rhinitis (AR) in the Mediterranean region. OBJECTIVE: To evaluate the effect of desloratadine, a second-generation antihistamine, on AR symptoms caused by cypress pollens native to France. METHODS: Adults (N=233) with symptomatic cypress pollen allergies were randomized to receive desloratadine, 5 mg, or placebo daily for 15 days during 2 consecutive cypress pollen seasons. The primary end point was the percentage change from baseline in morning total nasal symptom scores on day 14; secondary assessments included total symptom score, peak nasal inspiratory flow, the Rhinoconjunctivitis Quality of Life Questionnaire, and global response to therapy. RESULTS: On day 14, the desloratadine group had a significantly greater percentage decrease in total nasal symptom score vs the placebo group (-40% vs. -30%; P < .04). Similarly, on day 14, there was a 47% and 37% respective decrease in total symptom score (P = .01). Mean peak nasal inspiratory flow scores showed numeric, albeit not statistically significant, improvements from baseline through day 14 with desloratadine. A significantly greater improvement in Rhinoconjunctivitis Quality of Life Questionnaire scores occurred with desloratadine vs placebo on day 14 (-1.4 vs. -0.9; P = .004). The mean global response to therapy was better with desloratadine vs placebo (3.4 vs. 3.9; P = .004). The adverse event rate was similar in both groups. CONCLUSION: Desloratadine is efficacious and safe for the treatment of AR induced by cypress pollens; it also improved disease-related quality of life.