| 1. |
- Björck, Martin, et al.
(författare)
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Nya behandlingsmöjligheter vid vaskulärt Ehlers : Danlos syndrom
- 2013
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Ingår i: Läkartidningen. - 0023-7205 .- 1652-7518. ; 110:29-31, s. 1354-1355
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Vaskulärt Ehlers–Danlos syndrom (VED) är en mycket ovanlig, autosomalt dominant nedärvd, sjukdom. Endast ca 50 individer i Sverige har en molekylärgenetiskt verifierad diagnos.En randomiserad studie visar att betablockeraren celiprolol kan förebygga kärlkatastrofer vid vaskulärt Ehlers–Danlos syndrom.Vid kärlkomplikationer är konservativ behandling första val, men det kan vara riskabelt att avstå från öppen eller endovaskulär kärlkirurgi.Behandling behöver ofta inledas omgående, men kontakt bör tas med ett center med erfarenhet av att behandla detta farliga och ovanliga tillstånd.
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| 2. |
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| 3. |
- Rajpopat, Shefali, et al.
(författare)
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Harlequin Ichthyosis A Review of Clinical and Molecular Findings in 45 Cases
- 2011
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Ingår i: Archives of Dermatology. - : American Medical Association (AMA). - 0003-987X. ; 147:6, s. 681-686
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Forskningsöversikt (refereegranskat)abstract
- Objective: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. Design: Multicenter, retrospective, questionnaire-based survey. Setting: Dermatology research institute. Participants: Patients with harlequin ichthyosis for whom we had performed ABCA12 mutation analysis. Main Outcome Measures: Referring physicians were asked to complete a questionnaire using the patients' notes, detailing the clinical outcome of the affected child. In each case, the causative ABCA12 mutation was identified using standard polymerase chain reaction and sequencing techniques. Results: Of the 45 cases, the ages of the survivors ranged from 10 months to 25 years, with an overall survival rate of 56%. Death usually occurred in the first 3 months and was attributed to sepsis and/or respiratory failure in 75% of cases. The early introduction of oral retinoids may improve survival, since 83% of those treated survived, whereas 76% who were not given retinoids died. Recurrent skin infections in infancy affected one-third of patients. Problems maintaining weight affected 44%. Three children developed an inflammatory arthritis, and developmental delay was reported in 32%. Mutation analysis revealed that 52% of survivors had compound heterozygous mutations, whereas all deaths were associated with homozygous mutations. Conclusions: Harlequin ichthyosis should be regarded as a severe chronic disease that is not invariably fatal. With improved neonatal care and probably the early introduction of oral retinoids, the number of survivors is increasing. Compound heterozygotes appear to have a survival advantage.
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| 4. |
- Vahlquist, Anders, et al.
(författare)
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Genotypic and clinical spectrum of self-improving collodion ichthyosis : ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients
- 2010
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Ingår i: Journal of Investigative Dermatology. - : Elsevier BV. - 0022-202X .- 1523-1747. ; 130:2, s. 438-443
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Tidskriftsartikel (refereegranskat)abstract
- Infants born with autosomal recessive congenital ichthyosis (ARCI) are often encapsulated in a collodion membrane, which shows a lamellar or erythrodermic type of ichthyosis upon shedding. However, some babies show a nearly normal underlying skin after several weeks, a phenotype called "self-healing collodion baby" (SHCB). Mutations in two genes, TGM1 and ALOX12B, have previously been implicated in the etiology of SHCB, but the full genotypic spectrum remains to be determined. DNA sequencing in 11 Swedish and 4 Danish SHCB patients showed ALOX12B mutations in eight cases, ALOXE3 mutations in three cases, and TGM1 mutations in one case. In three patients, we could not find mutations in any of the known ARCI genes. In all cases, a spontaneous shedding of the collodion membrane occurred 2-4 weeks after birth. When re-examined at 2-37 years of age, the patients showed skin xerosis, a mild or focal scaling, palmar hyperlinearity with keratoderma, and a frequent appearance of red cheeks and anhidrosis. Thus, we propose replacing SHCB with the term "self-improving collodion ichthyosis" (SICI). In conclusion, ALOX12B mutations are the leading cause of SICI in Scandinavia, followed by ALOXE3 mutations, which have not been previously associated with this variant of ARCI.
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| 6. |
- Zhao, Linshu, et al.
(författare)
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Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda
- 2014
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Limited. - 0001-5555 .- 1651-2057. ; 94:6, s. 707-710
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Tidskriftsartikel (refereegranskat)abstract
- Palmoplantar keratoderma of the Gamborg-Nielsen type (PPK-GN) is a rare autosomal recessive skin disorder described in patients from Sweden. Mal de Meleda (MDM) is also a rare autosomal recessive inherited PPK first reported in 5 families from the island of Meleda. The 2 conditions phenotypically overlap and are characterised by palmoplantar erythematous hyperkeratotic plaques. The genetic background giving rise to PPK-GN has hitherto been unknown, whereas MDM is known to be caused by mutations in the gene encoding secreted Ly-6/uPAR-related protein 1, SLURP-1. In the present study we scrutinised individuals affected by PPK-GN for mutations in the SLURP1 gene and identified 2 different mutations. Fourteen Swedish patients were homozygous for a previously described mutation, c.43T>C, while one individual was a compound heterozygote with one copy of a novel mutation, c.280T>A, in addition to one copy of the c.43T>C mutation. Hereby we confirm that PPK-GN is an allelic variant of MDM.
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