| 1. |
- Benderix, Ylva, 1953-, et al.
(författare)
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Barn med neuropsykiatriskt funktionshinder
- 2009
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Ingår i: PEDIATRISK OMVÅRDNAD. - Stockholm : LIBER. - 9789147093274 ; , s. 309-315
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 2. |
- Bygum, Anette, et al.
(författare)
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Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings
- 2013
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 1651-2057 .- 0001-5555. ; 93:3, s. 309-313
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Tidskriftsartikel (refereegranskat)abstract
- A Danish Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire and a systematic examination together with photographs, histopathological descriptions and blood samples for mutational analysis. Sixteen patients from 12 families with generalized or naevoid epidermolytic ichthyosis and ichthyosis bullosa of Siemens were identified. Five families had mutations in K1 and 6 families had mutations in K10. Nine patients had been treated with systemic retinoids (etretinate, acitretin, isotretinoin or alitretinoin), but only 3 patients had acceptable treatment responses and chose to continue therapy. In conclusion epidermolytic ichthyosis is a rare disease with a prevalence of approximately 1 in 350,000 in Denmark and a high percentage of de novo mutations (75%). We identified 4 novel disease-causing mutations.
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| 3. |
- Carlsson, Annica, et al.
(författare)
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Scoring of hand eczema : good reliability of hand eczema extent score
- 2017
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 0001-5555 .- 1651-2057. ; 97:2, s. 193-197
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Tidskriftsartikel (refereegranskat)abstract
- There is good agreement between dermatological staff and patients using the Hand Eczema Extent Score (HEES). The aim of this study was to assess inter- and intra-observer reliability of the HEES in dermatologists and intra-observer reliability of the HEES in patients with hand eczema. Six dermatologists assessed 18 patients twice. Only the hands of the patients were visible to the assessors. Patients performed a self-assessment twice. Inter- and intra-observer reliability was tested with intraclass correlation coefficient (ICC). The mean HEES score for all dermatologists' assessments was 21.0 (range 3.6-46.3). The corresponding mean scores for all patients' own assessments were 24.9 (range 4.0-54.0). Inter-observer reliability in the dermatologists' observations ICC classification was very good, median value 0.82 (range 0.56-0.92). The overall intra-observer reliability for the 6 dermatologists' ICC classification was very good (range 0.88-0.94). Intra-observer reliability in the patients' 2 self-assessments ICC classification was very good (ICC 0.95). In conclusion, HEES is a reliable tool for both dermatologists and patients to grade the extent of hand eczema.
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| 4. |
- Carlsson, Annica, et al.
(författare)
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Scoring of hand eczema: good agreement between patients and dermatological staff
- 2011
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Ingår i: British Journal of Dermatology. - : Blackwell Publishing Ltd. - 0007-0963 .- 1365-2133. ; 165:1, s. 123-128
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Tidskriftsartikel (refereegranskat)abstract
- Background 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. Objectives To investigate whether the same scoring system could be used by patients to communicate current status of hand eczema. Methods In a study of 62 patients (36 women and 26 men, age range 1975 years), the patients own assessment was compared with 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 patients visit to the clinic. Individual area scores were summed 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 women and for patients over the median age of 44 years 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. Conclusions 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.
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| 5. |
- Dahlqvist, Johanna, et al.
(författare)
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Congenital ichthyosis : mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
- 2007
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Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 44:10, s. 615-620
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Tidskriftsartikel (refereegranskat)abstract
- Background: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of skin disorders. Several mutant genes have been identified in ARCI, but the association between genotype and phenotype is poorly understood. Methods: To investigate genotype–phenotype correlations in ARCI, we selected 27 patients from 18 families with specific ultrastructural features of the epidermis. The characteristic findings using electron microscopy (EM) were abnormal lamellar bodies and elongated membranes in the stratum granulosum, classified as ARCI EM type III. DNA samples from a subset of affected individuals were screened for homozygous genomic regions, and a candidate gene region was identified on chromosome 5q33. The region coincides with the ichthyin gene, previously reported as mutated in ARCI. Results: Mutation screening of ichthyin revealed missense or splice-site mutations in affected members from 16 of 18 (89%) families with characteristics of ARCI EM type III. In a control group of 18 patients with ARCI without EM findings consistent with type III, we identified one patient homozygous for a missense mutation in ichthyin. Discussion: Our findings indicate a strong association between ultrastructural abnormalities in the granular layer of epidermis and ichthyin mutations. The results also suggest that EM provides a tool for specific diagnosis in a genetically homogenous subgroup of patients with ARCI.
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| 6. |
- Gånemo, Agneta, et al.
(författare)
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Att leva med atopisk dermatit
- 2004
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Ingår i: Fagbladet allergi i praksis. - 0806-5462. ; :3, s. 12-12
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Tidskriftsartikel (refereegranskat)
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| 7. |
- Gånemo, Agneta, et al.
(författare)
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Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eithty-three patients
- 2003
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Ingår i: Acta Dermato-Venereologica. - 0001-5555 .- 1651-2057. ; 83:1, s. 24-30
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Tidskriftsartikel (refereegranskat)abstract
- Congenital (non-bullous) ichthyosis is a rare group of keratinizing disorders which can be tentatively subclassified based on clinical criteria, analysis of transglutaminase 1 gene mutations and electron microscopy of epidermis. We studied 83 patients who were all on topical therapy and in 16 cases also on oral retinoids. Three main groups of patients were distinguished: (A) those with transglutaminase 1 gene mutations (n=44), (B) those without transglutaminase 1 gene mutations showing a coarse, generalized scaling (n=19), and (C) those without transglutaminase 1 gene mutations showing only fine or focal scaling (n=20). On clinical scoring, patients in group A were more hyperkeratotic and less erythematous than those in group B (p < 0.05). Anhidrosis was recorded in nearly all patients (> or = 80%), but ectropion and a collodion phenotype at birth were more common in group A versus other groups. Ultrastructurally, a high frequency of type I (Anton-Lamprecht's classification) was found in all three groups (37-63%), 20 cases of type II in group A and a few cases of types III and IV in groups B and C, respectively. In conclusion, transglutaminase 1 gene mutation is a major cause of congenital ichthyosis in Sweden and Estonia, and is often associated with severe scaling and ultrastructural type II in corneocytes. The transglutaminase-unrelated cases are more heterogeneous, probably reflecting a more varied aetiology.
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| 8. |
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| 9. |
- Gånemo, Agneta, 1947-
(författare)
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Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life
- 2002
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- 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.
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| 10. |
- Gånemo, Agneta, et al.
(författare)
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Hud och sår
- 2009
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Ingår i: Omvårdnadens grunder. - Lund : Studentlitteratur. - 9789144048765 ; , s. 539-591
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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