Factors influencing quality of life in patients with inherited ichthyosis: a qualitative study in adults using focus groups.

BACKGROUND: There is limited information regarding quality of life in patients with inherited ichthyosis. OBJECTIVES: To identify factors influencing quality of life in patients with inherited ichthyosis. METHODS: The study used focus groups and involved adult patients suffering from inherited ichthyosis from three French hospital centres. Group discussions were conducted by two facilitators and were continued until data saturation was reached. The verbatim transcripts were analysed independently by two investigators. Categories considered as key factors in the modulation of quality of life were negotiated until agreement was obtained. RESULTS: Data saturation was reached after the fifth group. A total of 25 patients affected by various forms of ichthyosis attended these focus groups. The identified factors influencing quality of life were related to physical health, daily life, relations with others or oneself. However, together with difficulties related to ichthyosis, patients also underlined some positive aspects of the disease and described specific measures used to improve their quality of life. CONCLUSIONS: This is the first study investigating the different factors that could impact quality of life in patients with ichthyosis. This provides an essential framework from which physicians can develop strategies to improve patient care and quality of life and to develop a specific quality of life questionnaire.

Short- and medium-term efficacy of specific hydrotherapy in inherited ichthyosis.

BACKGROUND: Management of inherited ichthyoses is symptomatic. Despite treatment, skin symptoms have a major impact on patients' quality of life (QoL). OBJECTIVES: To assess the short- and medium-term efficacy of hydrotherapy on QoL and clinical symptoms of patients with inherited ichthyosis. METHODS: In this 9-month prospective, open-label, multicentre study, 20 children and 24 adults with ichthyosis were enrolled in several French reference and competence centres, 2 months before undergoing a 3-week treatment with specific hydrotherapeutic management at Avène Hydrotherapy Centre. At baseline (2 months before hydrotherapy), beginning (D0) and end of hydrotherapy (D18), and 3 and 6 months later at the reference and competence centres, patients self-assessed QoL using the Dermatology Life Quality Index (DLQI) or its paediatric version (Children's DLQI), and investigators evaluated ichthyosis severity using a specific clinical ichthyosis score. RESULTS: The DLQI scores were significantly improved not only at the end of the hydrotherapy treatment (-56% vs. baseline; mean ± SD 3·59 ± 4·30 at D18 vs. 8·35 ± 5·71 at D0; P < 0·0001), but also at 3 months (-28% vs. baseline; P = 0·01) and 6 months after hydrotherapy (-26% vs. baseline; mean ± SD 5·21 ± 5·11 vs. 6·89 ± 5·38; P = 0·03) (primary criterion). Clinical symptoms were also significantly improved at all post-treatment visits, with a decrease of the mean clinical ichthyosis score by -38% between D0 and D18, by -30% at 3 months and by -31% at 6 months vs. baseline. CONCLUSIONS: A 3-week treatment at Avène Hydrotherapy Centre provided significant and persisting improvement of QoL and clinical symptoms in patients with inherited ichthyoses.

Early skin biopsy is helpful for the diagnosis and management of neonatal and infantile erythrodermas.

BACKGROUND: Erythrodermas are often life-threatening conditions in infants. Determination of the underlying cause is crucial. Microscopic changes in adult erythroderma lack specificity. OBJECTIVE: To determine if an early skin biopsy is helpful for the diagnosis of neonatal and infantile erythroderma. METHODS: Seventy-two patients admitted for erythroderma in the first year of life were retrospectively included. One hundred and eleven skin biopsies (12-year period) were examined by 3 pathologists blinded to the clinical diagnosis, and classified into atopic dermatitis, immunodeficiency (ID), psoriasis, Netherton syndrome (NS), ichthyosis, other. From year 2000, LEKTI antibody was performed when NS was suspected. Pathological diagnosis was then compared with clinical diagnosis. RESULTS: The final diagnosis was made in 69.3% of the cases. In 57.6%, pathological diagnosis was in accordance, and in 11.7%, it was in accordance, but other diagnosis had also been proposed. For ID, sensitivity and specificity were 58.5 and 98.5%, respectively. Before year 2000, NS was frequently misdiagnosed with psoriasis, but with the use of LEKTI antibody, sensitivity and specificity were 100%. CONCLUSION: Skin biopsy is helpful for etiologic diagnosis of early erythroderma of infancy, particularly in ID and NS, the most severe diseases. Consequently, these results justify an early systematic skin biopsy for a better and earlier management.

Nonbacterial purpura fulminans and severe autoimmune acquired protein S deficiency associated with human herpesvirus-6 active replication.

Nonbacterial purpura fulminans (PF) is rare, usually follows viral infection in young children, and is characterized by specific coagulation disorders, requiring specific therapy. Following a transient rash, a 2-year-old previously healthy girl developed PF without haemodynamic impairment. Laboratory data revealed disseminated intravascular coagulation and a severe transient protein S deficiency. Antiprotein S autoantibodies and active human herpesvirus-6 (HHV6) replication were demonstrated. Purpuric skin lesions spread very rapidly despite broad-spectrum antibiotics and right leg amputation. Plasmapheresis and intravenous immunoglobulins gave complete clinical recovery and normalization of protein S level within 10 days, with progressive clearance of antiprotein S autoantibodies. Transient severe protein S deficiencies have previously been reported in patients with nonbacterial PF, usually after varicella infection. This is the first documented case of PF after HHV6 infection.

[Frequency of plantar dermatophytosis. A retrospective study 2002-2003]. / Estimation de la fréquence des atteintes plantaires à dermatophytes.

BACKGROUND: Plantar dermatophytosis frequently goes unnoticed and can cause relapse or re-infestation at other sites. The purpose of this study was to evaluate the incidence of plantar dermatophytosis in association with onyxis and intertrigo involving dermatophytes. PATIENTS AND METHODS: This was a retrospective study in patients seen at mycology consultations between January 2002 and December 2003 and for whom culture revealed dermatophytes on the soles, interdigital spaces and/or toe nails. Gender, age and culture data were record from the laboratory workbooks. RESULTS: 716 patients were included, giving 1291 samples. The sex ratio M/F was 1.5 with a mean age of 48 years. Samples of toe nail were obtained from 591 patients, with plantar samples from 433 patients and intertrigo samples from 267 patients. Plantar dermatophytosis was seen in 66.6% of patients with interdigital-plantar signs, in 75.1% of those with ungual involvement and in 73.9% of cases involving both. T. rubrum was the most frequently isolated dermatophyte. DISCUSSION: Combine involvement of the sole, nail and/or interdigital space was seen in more than 2/3 of cases. Despite the retrospective nature of our study and the evident bias, our results suggest that plantar dermatophytosis is common and should be sought. The sensitivity and specificity of clinical screening methods merit investigation in a prospective study.

Awareness, knowledge and attitudes towards sun protection among skin cancer-treated patients in France.

BACKGROUND: The incidence of skin cancer has risen over the past years, owing to increased exposure to ultraviolet radiation. Sun protection measures include avoiding exposure to the sun, using covering clothing and applying sunscreen. We evaluated the knowledge and compliance with advices about sun protection in a population of patients who had presented skin tumour(s). SUBJECTS AND METHODS: A 30 question self-reporting questionnaire evaluating sun protective behaviour was distributed to 217 consecutive skin cancer-treated patients and completed by 198 of them. RESULTS: 72% of the responders had presented a melanoma, and 26% of them had presented only non-melanoma skin cancer. The present survey shows that patients who have had a skin cancer were aware of the cancer related risk of sunlight since 98% of the responders knew that ultraviolet radiations can include skin cancer. These patients did also take sun-protective measures because 73% of them had worn covering clothes when in the sun and 59% of them avoided outdoor activities during the midday hours. CONCLUSION: These results suggest that, after diagnosis of a skin cancer, patients limited their sun exposure; and wear protective clothing. However, sun-protection measures did not seem to be completely adequate. An evaluation of the various barriers to sun safety might be a key to understanding the sub-optimal sun protection.

[Requests for emergency appointments with dermatologists in private practice in France: the ETude Urgences en DErmatologie libérale (ET.U.DE) study]. / Demandes de rendez-vous en urgence en dermatologie libérale: ETude Urgences en DErmatologie libérale (ET.U.DE).

BACKGROUND: Requests for emergency appointments are fairly common in private dermatologic practice in France. To our knowledge the frequency and reasons for such requests have not yet been evaluated. The primary objective of our study was to provide a quantitative and qualitative evaluation of such requests and to assess the underlying reasons. The secondary aim was to investigate for an association between emergency requests where response was justified within 48 hours and the symptoms reported by patients in order to establish a predictive score for the validity of requests. METHODS: The study took place during one week in April 2004. Forty French dermatologists took part on a voluntary basis. They deliberately reduced their ongoing schedule to accommodate patients seeking an urgent appointment. We collected data regarding the normal professional activity of each dermatologist, reasons for appointments, symptoms, diagnosis and evaluation of the degree of emergency by the attending dermatologist. Univariate and multivariate analyses were performed and a score was attributed based on the results for the variables used in the logistic regression model. RESULTS: The mean number of patients seen at emergency appointments during the study week doubled in comparison with a normal period. During the week, 613 patients phoned and all questionnaires were completed for 538 (88%) patients. The most common reasons for requesting an appointment were: rash, eczema, pruritus, tumour modification, localized lesion and allergy. The most frequent diagnoses were: eczema, bacterial and viral infection, atopic dermatitis, mycosis and naevus. The dermatologists considered that the consultations were justified within 48 hours for one third of patients. In the multivariate analysis, factors significantly associated with a justified request were of a general medical rather than a dermatological nature: enlarged cysts, blisters, insomnia, impaired activity, onset or aggravation within the previous 7 days, inability to work. The score showed good specificity but poor sensitivity and discriminative value. DISCUSSION: These results suggest that requests for emergency appointments are more frequent than previously suspected (14% of all requests). Physicians considered that emergency appointments within 48 hours were justified for one third of patients. The reasons for consultation and the resulting diagnoses were similar to those seen in emergency hospital consultations. The criteria on which the need for emergency consultation was based were not for the most part dermatologic. The scoring system we established was not sensitive enough to allow reliable pre-selection of patients requiring emergency consultation by telephone.

Multiple large solar lentigos on the upper back as clinical markers of past severe sunburn: a case-control study.

BACKGROUND: Multiple solar lentigos commonly seen on the upper back and shoulders of adults are classically considered as a sign of photodamage, although epidemiological studies are scarce. AIM: To assess whether these lesions are clinical markers of past severe sunburn. METHODS: A case-control study in two outpatient dermatology clinics in French university hospitals. Past episodes of moderate and severe sunburn were compared between 145 adult patients with multiple solar lentigos on the upper back and 145 matched controls. RESULTS: In multivariate analysis adjusted for potential confounders, recalled episodes of sunburn during childhood, adolescence and adulthood were independently associated with the presence of multiple solar lentigos (adjusted odds ratios, 95% confidence intervals: 2.3 (1.1-5.2) and 28.1 (10.4-75.6) for moderate and severe sunburn, respectively). CONCLUSION: Multiple solar lentigos on the upper back and shoulders of adults are potential clinical markers of past severe sunburn which may thus be used to identify a population at higher risk of developing cutaneous malignant melanoma.

Poor agreement between self-reported and dermatologists' diagnoses for five common dermatoses.

BACKGROUND: Few epidemiological studies assessing the prevalence of chronic dermatosis are available in France and most of these studies have used biased samples drawn from specific subpopulations. As several recent studies have mentioned that self-reported diagnosis either underestimates or overestimates disease prevalence, the validity of such data is questionable. OBJECTIVES: To evaluate the agreement between self-reported and dermatologists' diagnoses for five chronic dermatoses: acne, eczema, fungal infection, psoriasis and seborrhoeic dermatitis, and to analyse the factors associated with patients' diagnosis knowledge. PATIENTS/METHODS: A cross-sectional study was conducted on the national day of skin tumour screening in April 2003. A self-administered questionnaire was completed by patients and a standard form was completed by dermatologists after clinical examination. A total of 4,622 adults were examined by a dermatologist in 134 screening centres across France. The agreement between self-reported and dermatologists' diagnoses was analysed using the kappa index. Characteristics of patients who were aware of their diagnosis were compared with those of patients who were not, by using multivariate logistic regression models. RESULTS: The demographic characteristics of the sample differed from those of the French population. The self-reported prevalence was significantly lower than the actual prevalence for all diseases except eczema. Underestimations ranging from 23% to 35% were observed in nearly all subgroups of our population. The agreement between self-reported and dermatologists' diagnoses was low to moderate. Many cases of chronic skin diseases were diagnosed in patients who did not report them. Diagnosis knowledge was poorer in those above 54 years of age and better for patients treated for the condition and those with impairment of social life. CONCLUSIONS: We observed a low agreement between self-reported and dermatologists' diagnoses for five chronic diseases. Self-reports underestimated the actual prevalence of four of five common diseases.

[Bullous pemphigoid in young patients: a retrospective study of 74 cases]. / Pemphigoïde du sujet jeune.

INTRODUCTION: Bullous pemphigoid usually affects elderly people. Only a few isolated cases among people younger than 65 years have been reported. OBJECTIVES: Describe the clinical and biological characteristics of patients younger than 60 years suffering from bullous pemphigoid, compare them with the usual characteristics known among elderly people and search for potential pathological associations. PATIENTS AND METHODS: Retrospective, national, multicenter study. Clinical, biological and histological characteristics were recorded with a standardised questionnaire as well as treatments and associated pathologies. RESULTS: Seventy-four cases of bullous pemphigoid diagnosed between June 1970 and March 2002 were analyzed. Mean age at the beginning of the disease was 46 +/- 11.6 years. Further explorations by indirect immunofluorescence of separated skin and/or immuno-electron microscopy and/or immunoblotting were performed for 42 patients (56.8 p. 100). Clinical characteristics among this restricted population were comparable to those found among the 32 other cases. Compared to usual data on bullous pemphigoid in elderly people, we observed a greater proportion of extensive form of disease (75 p. 100), a more frequent head and neck involvement (39.2 p. 100) and an overexpression of anti-BP180 autoantibodies (48 p. 100). Neoplasm was notified for 7 patients (9.5 p. 100), 18 (24.3 p. 100) suffered from a pathology of the basement membrane zone (6 psoriasis, 6 atopic dermatitis and 6 lichen) and 13 from neurological disease, among which 4 were bedridden. Fourty-six patients (62.2 p. 100) received drugs for the long term (mean 2.12 +/- 2.43), 4 patients were treated by PUVAtherapy and 2 by radiotherapy. DISCUSSION: Our results suggest that bullous pemphigoid among young people is more severe and more active than the usual form in the elderly. This particular form could be the result of a higher expression of anti-BP180 autoantibodies, which are considered as a marker of poor prognosis in this disease. We also found a high frequency of pathological associations and physical treatment, all responsible for damage to the basement membrane zone, which can involve auto-immunization against hemidesmosome components.