Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses.

BACKGROUND: Inherited ichthyoses are rare disorders characterized by generalized skin scaling. Among them, autosomal recessive congenital ichthyoses (ARCI) form a major subgroup presenting lifelong and severely disabling cutaneous and extracutaneous features and symptoms for which no curative treatment is available. Management relies on daily time-consuming and distressing topical medications. Disease manifestations, symptoms, and daily care affect not only the patient self-perception, but also different dimensions of patient and family life. To date, there is only a French validated ichthyosis-specific questionnaire, "Family Burden in Ichthyosis" (FBI), for the evaluation of family disease burden. It addresses economical aspects, daily life, familial and personal relationships, work, and psychological impact. The aim of our study was to develop an Italian translation of the French FBI questionnaire and to pilot-test it in ARCI patients. METHODS: The guidelines for cross-cultural adaptation of health-related quality of life measures were followed. Specifically, two independent forward translations were produced, followed by a reconciliation step by a multidisciplinary expert committee and back-translation. Revision of the original text and all translations was performed by the expert committee leading to a final version, which was pilot-tested by cognitive debriefing on 10 caregivers whose comments were evaluated by the committee. RESULTS: The translation and reconciliation process led to minor changes in five items in order to clarify the questions in relation to the possible answers or to obtain semantic/idiomatic/cultural equivalence of the Italian version with the French one. The cognitive debriefing process resulted into further minor wording modifications in four items to describe more precisely the disease impact according to parents' comments. The FBI developer approved the final Italian FBI version. CONCLUSIONS: The Italian version of the FBI generated in the present study is a useful instrument to measure the impact of ichthyosis on family daily life, education and working activities, psychological implications, and the disease economic load. The questionnaire will be further validated through a multicenter Italian study on burden of ARCI. A validated Italian questionnaire is a valuable tool for future clinical trials. In addition, it can be used to rapidly identify family distressing situations, which require attention and prompt intervention.

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.

Nalfurafine suppresses pruritogen- and touch-evoked scratching behavior in models of acute and chronic itch in mice.

The kappa-opioid agonist, nalfurafine, has been approved in Japan for treatment of itch in patients with chronic kidney disease. We presently investigated if systemic administration of nalfurafine inhibited ongoing or touch-evoked scratching behavior (alloknesis) following acute intradermal injection of histamine or the non-histaminergic itch mediator, chloroquine, in mice. We also investigated if nalfurafine suppressed spontaneous or touch-evoked scratching in an experimental model of chronic dry skin itch. Nalfurafine reduced scratching evoked by histamine and chloroquine. Following acute histamine, but not chloroquine, low-threshold mechanical stimuli reliably elicited directed hindlimb scratching behavior, which was significantly attenuated by nalfurafine. In mice with experimental dry skin, nalfurafine abolished spontaneous scratching but had no effect on alloknesis. Nalfurafine thus appears to be a promising treatment for acute itch as well as ongoing itch of dry skin.

Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study.

BACKGROUND: Ichthyoses are a heterogeneous group of rare genodermatoses. Patients and their families face difficulties related to daily care and management that may be aggravated by social isolation. OBJECTIVES: To evaluate the impact of therapeutic educational programs in improving the knowledge of ichthyosis patients, and their relatives, about their disease. PATIENTS AND METHODS: We organized a two sessions-program of "know-how" dedicated to the overall management of ichthyoses. These sessions were conducted based on a tool specifically designed for the study, which addressed our various areas of expertise through a collective game. The participants (patients and their parents and siblings) were divided into groups, and the questions were tailored according to the participants' age. The program was conceived as a knowledge reinforcement program that took place during a weekend of education and rest, organized away from healthcare structures. Our aim was to facilitate the program in a neutral place to encourage respite care and to ensure the availability of a multidisciplinary healthcare team. RESULTS: After the reinforcement session, children aged from 6 to 12 years and their families acquired the targeted know-how and social skills. CONCLUSION: Benefits of TPE in the management of ichthyoses are the following: (1) the trust between patients their families and the caregivers was strengthened; (2) the context of the program encouraged self-expression, answered questions and provided mutual aid; and (3) the more self-sufficient families could better manage emergencies.

Complications of ichthyosis beyond the skin.

Although ichthyoses are noted for their skin features, like many dermatologic conditions, patients are often impacted in ways beyond the skin. Much has been described in recent years regarding quality of life and skin disorders. This is certainly the case for ichthyosis. For neonates or others with diffuse involvement of their skin, nutritional needs are often exceeding normal requirements. These can often result in growth abnormalities. Lastly, with specific subtypes of ichthyosis, compromise of tissues around the eyes and ears can be of concern to some patients. Certainly, some forms of ichthyosis are routinely complicated by such findings. It is important for practitioners caring for individuals with ichthyosis to have these issues in mind.

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.

Resource utilization and quality of life associated with congenital ichthyoses.

We explored resource utilization (ResUtil) and quality of life (QOL) associated with congenital ichthyoses (CI). Subjects completed an online survey related to clinical severity, demographics, ResUtil, and QOL as measured according to the Dermatology Life Quality Index (DLQI). Validated Likert scales were used to evaluate severity of hyperkeratosis, erythema, and alopecia. ResUtil was determined according to time spent daily treating CI symptoms (TimeTx) and number of ichthyosis-related dermatology visits (DermVisits) per year. We used linear regression to investigate predictors of a transformed DLQI (sqrtDLQI) and logistic regression for ResUtil. Of 235 subjects, 60.2% were female, 83.8% were Caucasian, 42.3% had a family history (FamHx) of CI, and the mean age was 28.7 years (SD 20.3). Predictors for worse QOL were hyperkeratosis severity (ß = 0.27, p < 0.01), erythema (ß = 0.27, p < 0.01), TimeTx (ß = 0.21, p < 0.01), ichthyosis type (ß = 0.09, p < 0.01), and age (ß = 0.01, p = 0.02). Predictors for DermVisits were hyperkeratosis severity (odds ratio [OR] = 1.38, 95% confidence limit [CL] = 1.01, 1.87), FamHx (OR = 0.28, 95% CL = 0.09, 0.85), age (OR = 0.97, 95% CI = 0.96, 0.99), and alopecia severity (OR = 1.43, 95% CL = 1.12, 1.82). Predictors for treatment duration were erythema (OR = 1.35, 95% CL = 1.02, 1.78), age (OR = 0.98, 95% CL = 0.96, 0.99), and DLQI (OR = 1.09, 95% CL = 1.03, 1.15). Increased hyperkeratosis severity and erythema negatively impact QOL in the CI. Furthermore, increased disease severity predicted greater ResUtil, whereas increased age and FamHx predicted less ResUtil. Our findings suggest that better therapies and increased patient education may improve QOL and decrease ResUtil.

Quality of life in patients with uraemic xerosis and pruritus.

A total of 334 end-stage renal disease patients with moderate-to-severe uraemic xerosis were surveyed for quality of life assessment, using the generic Short-Form (SF-12) scale and the Dermatology Life Quality Index (DLQI). In parallel, the intensity of xerosis at four sites (the two lower legs, chest, forearm without arterio-venous shunt) was assessed, using a five-point lesional intensity score. Pruritus was auto-assessed by the patients, using a 100-mm visual analogue scale. Uraemic xerosis patients had a marked deterioration in the Physical Component Summary of SF-12 (mean ± SD: 34.92 ± 9.98) and DLQI (5.06 ± 4.73). Younger age (r = -0.20), xerosis intensity (r = 0.14), and the presence of pruritus (p < 0.0001) and its intensity (r = 0.50) were shown to be significant worsening factors of DLQI. Because a low, but significant, correlation between the intensity of xerosis and pruritus was also demonstrated (r = 0.18), the direct contribution of age, xerosis and pruritus on DLQI was analysed in a multiple linear regression model. Age and pruritus intensity, but not xerosis intensity, were found to be independent contributors to DLQI deterioration (p < 0.0005). On the other hand, uraemic xerosis without associated pruritus still resulted in DLQI alteration (3.24 ± 3.99). It was concluded that young age and intensity of uraemic pruritus compromise quality of life in uraemic xerosis patients. Some characteristics of uraemic xerosis other than xerosis intensity may also be involved in quality of life alteration.

Reliable methods to evaluate the clinical severity of ichthyosis.

A reliable method for assessing ichthyosis severity has not been uniformly agreed upon. The objective of our study was to develop and validate a tool to measure the clinical severity of the congenital ichthyoses, the Congenital Ichthyoses Severity Index. A prospective study was performed to determine reliability of three Likert scales to evaluate clinical severity of ichthyosis. Thirty-eight subjects recruited from the Foundation for Ichthyosis and Related Skin Types National Conference were evaluated separately by two blinded investigators using the Likert scales. Subjects were then asked to evaluate themselves using these scales. Inter-rater reliability was determined between ratings provided by all three raters. Test-retest validation was conducted with 21 subjects who completed follow-up surveys 4 weeks later. Our severity scales had excellent inter-rater and test-retest reliability as determined by intraclass correlation coefficients (ICC >0.7), with the exception of our hyperkeratosis scale, which demonstrated moderate test-retest reliability (ICC = 0.4). This pilot study provides a promising method for evaluating clinical severity of the congenital ichthyoses, one easily employed by both physicians and patients. Future epidemiologic studies may benefit from use of this instrument, as well as studies evaluating emerging therapies for ichthyosis.

Emollients: application of topical treatments to the skin.

Nurses working in various clinical settings can make a real difference to the clinical effectiveness of topical applications to the skin by increasing their knowledge of the choice and mechanisms involved. This is particularly the case for nurses who are non-medical prescribers when considering first-line therapies for patients with eczema. It is important for all nurses to acknowledge that topical treatments, however simple, are a form of drug therapy and must be given the same considerations for their specific actions whether you are prescribing, applying or reviewing their effect. Emollients have an as important part to play in the treatment of all dry skin conditions. This article focuses on increasing the reader's knowledge of the application of topical emollient therapy, as well as highlighting some practical tips to consider.

[Ichthyoses and related keratinization disorders. Management, clinical features and genetics]. / Ichthyosen und verwandte Verhornungsstörungen. Versorgung, Klinik und Genetik.

This review concerns ichthyoses and related keratinization disorders. These are rare genetic skin diseases which are associated with marked scaling, often considerable cutaneous inflammation and a severe disease burden both physically as well as psychosomatically. The review briefly discusses how to establish a clinical diagnosis, how to provide genetic counseling for the patient and their family and how to best manage such diseases. Particular emphasis is given to the new possibilities in diagnosis and treatment opened by the recently established network for ichthyoses and related keratinization disorders (NIRK). This network is funded by the German Ministry for Education and Research and aims to integrate research efforts into disease mechanisms and to spread and transfer knowledge about these diseases to achieve better clinical care for the patients.

Health-related quality of life among patients with ichthyosis.

Ichthyosis encompasses a heterogeneous group of hereditary skin disorders, which can be present at birth or develop in childhood. The aim of the present study was to investigate the Health related quality of life (HRQoL) of patients with ichthyosis. Two questionnaires (Dermatology Life Quality Index [DLQI], and the generic Short Form [SF] - 36) and a subjective measure of disease activity employing a visual analogue scale (VAS) were mailed to 144 patients. 122 patients aged 17-78 years responded. The median for DLQI was 5.0, which was significantly higher (worse) for Lamellar ichthyosis than for X-linked recessive ichthyosis. The SF-36 showed significantly lower (worse) scores for the study group in four of the eight dimensions compared to age- and gender-adjusted Swedish norm scores. No differences in SF-36 were found between men and women or between the different groups of ichthyosis. The results demonstrate that ichthyosis has an adverse effect on HRQoL.

Quality of life in adults with congenital ichthyosis.

BACKGROUND: Little is known about the quality of life of people with congenital and generalized skin diseases. Describing life history and quality of life from an individual perspective could increase understanding of living with generalized congenital ichthyosis for nursing staff and others. AIM: The aim of our study was to illustrate how middle-aged and older people with lamellar ichthyosis or epidermolytic hyperkeratosis describe the effects of their disease on their quality of life. METHODS: Six women and four men aged 56-80 years participated. A global clinical assessment of the severity of the disease was performed. The Nottingham Health Profile (NHP) questionnaire was used to investigate quality of life. Participants were interviewed face-to-face about childhood and adulthood experiences of living with a skin disease. Interview data were analysed using content analysis. RESULTS: Interview data were assigned to two categories, childhood and adulthood, and organized under 16 themes. All interviewees reported that their skin disease had affected them negatively to varying degrees during their entire lives, and that the most problematic period was childhood. Coping strategies used during childhood were hiding of the skin and developing shyness. There were no correlations between objective signs of ichthyosis and the NHP scores. CONCLUSIONS: Congenital ichthyosis appears to affect several aspects of life negatively, and it is hoped that an understanding of the effects of the disease will lead to more efficient nursing care.

Case study: Harlequin fetus, a disease of cornification.

The Ichthyosis are a family of genetic skin diseases characterized by dry, thickened, scaling skin. Harlequin Fetus is the most rare and severe form of congenital ichthyosis. It is inherited in an autosomal recessive pattern. In this particular case study a Harlequin Fetus, who is now an 8 year old child, is described from birth to present. His skin care is detailed for others to understand that the diseases of cornification can be managed successfully with meticulous and consistent care.

Ichthyosis and delusions of lizard invasion.

We report the case of a young man who developed a delusion that his body was being invaded by a lizard during an acute psychotic episode. This occurred in the context of ichthyosis presenting as scaling on his arms and legs, which he believed to be the growth of the lizard's skin.