Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life

Hereditary ichthyosis is a collective name for many dry and scaly skin disorders ranging in frequency from common to very rare. The main groups are autosomal recessive lamellar ichthyosis, autosomal dominant epidermolytic hyperkeratosis and ichthyosis vulgaris, and x-linked recessive ichthyosis. Anhidrosis, ectropion and keratodermia are common symptoms, especially in lamellar ichthyosis, which is often caused by mutations in the transglutaminase 1 (TGM1) gene. The aim of this work was to study patients with different types of ichthyosis regarding (i) the patho-aetiology (TGM1 and electron microscopy [EM] analysis), (ii) skin signs and symptoms (clinical score and subjective measure of disease activity), (iii) quality of life (questionnaires DLQI, SF-36 and NHP and face-to-face interviews) and (iv) a search for new ways of topical treatment. Patients from Sweden and Estonia with autosomal recessive congenital ichthyosis (n=83) had a broader clinical spectrum than anticipated, but a majority carried TGM1 mutations. Based on DNA analysis and clinical examinations the patients were classified into three groups, which could be further subdivided after EM analysis. Our studies indicate that patients with ichthyosis have reduced quality of life as reflected by DLQI and by some domains of SF-36, by NHP and the interviews. All the 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. All patients with ichthyosis use topical therapy. In a double-blind study creams containing either 5% urea or 20% propylene glycol were found inferior to a cream formulation containing lactic acid 5% and propylene glycol 20% both regarding clinical improvement and thinning of the skin barrier. Improved topical therapy may reduce the need of more toxic, oral drugs. Future studies should elucidate whether this increases the quality of life of ichthyosis patients, especially if combined with more detailed information about the aetiology and inheritance of the diseases

Quality of life in Swedish children with congenital ichthyosis

Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their family. Fifteen children aged 5-16 years with lamellar ichthyosis, Netherton’s syndrome, epidermolytic hyperkeratosis or Harlequin ichthyosis, were investigated concerning the effect of their ichthyosis on their quality of life. This was measured with the established Children’s Dermatology Life Quality Index (CDLQI), and the Dermatitis Family Impact questionnaire (DFI) modified by substituting the word ichthyosis for eczema. The questionnaires covered the preceding seven days and each had a maximum score of 30: the higher the score, the greater the Quality of Life impairment. The median score was 9.0 (range 2-19) for the CDLQI and 9.0 (range 3-21) for DFI. There was a significant correlation between the DFI and the CDLQI scores. The item in the CDLQI questionnaire that showed the highest score was “itchy, scratchy, sore or painful skin” and the most highly scored item in the DFI questionnaire was effect on “housework, e.g. washing, cleaning”; both items related to the children’s symptoms. The results of the study clearly establish that congenital ichthyosis impairs the quality of life of the affected children and their families

Dermatology Reports 2010; volume 2:e7 Quality of life in Swedish

children with congenital ichthyosi

Quality of Life and Clinical Features in Swedish Children with Psoriasis.

Psoriasis is a common, chronic disease and in one-third of the patients it begins during the first 2 decades of life. The burdens of psoriasis are many, and some can be assessed with quality of life questionnaires. The aim was to investigate the impact of childhood psoriasis on quality of life in children and their parents and to correlate certain clinical findings with quality of life. Forty-five Swedish children (4-16 years, 28 girls) with psoriasis, and their parents, were investigated with the validated questionnaires Children's Dermatology Life Quality Index (5-16 years, n = 42), The Infant's Dermatitis Quality of Life Index (4 years, n = 3), and Dermatitis Family Impact (n = 45), the two latter with the word eczema replaced by psoriasis. Clinical examination was performed, and psoriasis severity was scored with Psoriasis Area and Severity Index. Chronic plaque psoriasis was the most common clinical type (87%). Four of the children had joint complaints. Ninety-three percent had pruritus the preceding 3 days. Ninety-three percent were receiving treatment. Median Psoriasis Area and Severity Index score was 3.3 (range 0.5-12.3). Median score for the Infant's Dermatitis Quality of Life Index was 4.0 (range 2-12), for Children's Dermatology Life Quality Index 4.0 (0-24), and for Dermatitis Family Impact questionnaire 4.0 (0-25). No significant gender difference existed. The Children's Dermatology Life Quality Index scores were higher for younger (5-8 yrs) than older (9-16 yrs) children and higher for those with joint complaints. The Dermatitis family impact scores correlated significantly with Children's Dermatology Life Quality Index and Psoriasis Area and Severity Index scores, but the Children's Dermatology Life Quality Index did not correlate with Psoriasis Area and Severity Index. The Visual Analog Scale and quality of life scores were significantly correlated. Psoriasis in children affects quality of life in the subjects and their parents. Joint complaints and pruritus significantly impair quality of life

A systematic review of tacrolimus ointment compared with corticosteroids in the treatment of atopic dermatitis.

Abstract Objective: A systematic review and meta-analysis was conducted to determine the efficacy and tolerability of tacrolimus ointment for the treatment of atopic dermatitis (AD) compared with topical corticosteroids. Methods: Electronic searches were performed in Medline, Embase and the Cochrane Library, as well as relevant conference proceedings. Two researchers independently selected trials investigating the efficacy and/or safety of tacrolimus ointment in the treatment of AD. No language restrictions were applied. Relevant outcome data from included trials were extracted by two independent reviewers. Direct meta-analysis to calculate relative risks (RR) (95% confidence intervals (CIs)) was conducted on dichotomous efficacy/safety outcomes of interest. Results: Seventeen trials comparing tacrolimus ointment with topical corticosteroids in both paediatric (n = 2328) and adult (n = 2849) patients were identified. No studies comparing tacrolimus ointment with class IV topical corticosteroids were identified. Tacrolimus 0.1% ointment was found to be of similar efficacy to class I/II and class III topical corticosteroids. In three individual trials (comparing tacrolimus 0.1% ointment to a topical corticosteroid), evaluation of the Physician's Global Evaluation of Clinical Response (PGECR) resulted in RRs of 0.95 (95% CI 0.78-1.16), 3.09 (95% CI 2.14-4.45) and 1.35 (95% CI 0.86-2.12), where values above one favour tacrolimus ointment. With the exception that tacrolimus ointment caused more skin burning than comparator treatments (tacrolimus 0.03% versus a class III topical corticosteroid, the RR was 3.00 (95% CI 1.21-7.43) in favour of the corticosteroid), no significant differences with regards to side-effects and withdrawals due to AEs were found. Quality of life data were reported in two studies. While one study reported greater improvements in tacrolimus-treated adult patients compared with topical steroids, the second reported greater improvements in paediatric patients treated with steroids compared with tacrolimus ointment. Conclusions: The current review and meta-analysis showed tacrolimus ointment to be of similar efficacy to corticosteroids. The interpretation of available data is limited by heterogeneity in outcome measures between trials. Further trials are needed to assess the impact of treatments on patient reported outcomes

Quality of life in Swedish children with eczema

The burdens of childhood eczema are many and some can be assessed with quality of life (QoL) questionnaires. Seventy-eight Swedish children with mild-to-severe eczema ("atopic dermatitis", prurigo Besnier), fulfilling established diagnostic criteria, were investigated for the effect of eczema on QoL. This was measured with validated questionnaires: the Infants' Dermatitis Quality of Life Index (IDQOL), the Children's Dermatology Life Quality Index (CDLQI), and the Dermatitis Family Impact Questionnaire (DFI). The study also included scoring of eczema severity. The median score was 7.0 (range 1-18) for IDQOL, 6.0 (range 2-18) for the CDLQI, and 8.0 (range 0-27) for DFI. There was no significant difference in scores between boys and girls. The DFI scores were higher for younger than for older children, and also higher for those with both eczema and asthma, food allergy/intolerance, allergic rhinoconjunctivitis or urticaria. The QoL scores correlated significantly with the Rajka & Langeland score, but not with objective SCORAD. The outcome of the QoL instruments in this study clearly demonstrates that childhood eczema affects the children's and their families' QoL. QoL data offers a patient-oriented outcome measure of importance for understanding the patients' and their families' situation. Such information can also be used in intervention studies and in the allocation of healthcare resources to eczema care

Scoring of hand eczema: Good agreement between patients and dermatological staff.

Introduction: Assessment of hand eczema in a clinical study has been achieved using a scoring system which documents extent of eczema on different areas of the hand. Objective: To investigate whether the same scoring system could be used by patients to communicate actual status of hand eczema. Method: In a study of 62 patients (36 females 26 males, age 18-75), the patient's own assessment was compared to the assessment by a dermatologist and a dermatological nurse. Standardized information was given to the patient and the form was filled in independently by the patient, the nurse and the dermatologist, during the patient's visit to the clinic. Individual area scores were summated to a total score. Results: The overall agreement was good, with an interclass correlation (ICC) of 0.61 between patient and dermatologist for the total score. The ICC between nurse and dermatologist was 0.78. Differences between observers were more pronounced for the more severe cases - those with higher numerical scores as assessed by the dermatologist. There was a tendency for female patients and for patients over the median age of 44 to set a lower point score than the dermatologist. The concordance of observations from individual anatomical areas was higher for fingertips and nails and lower for the palm and dorsum of the hand. Conclusion: Patients are able to report the extent of hand eczema with good accuracy. Self-assessment protocols for hand eczema may well have a place in the monitoring of hand eczema extent over time