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Spectrum of Autosom...
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia : Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients
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- Pigg, Maritta H. (författare)
- Uppsala University,Uppsala universitet,Medicinsk genetik och genomik
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- Bygum, Anette (författare)
- Odense Univ Hosp, Dept Dermatol, Odense, Denmark.;Odense Univ Hosp, Allergy Ctr, Odense, Denmark.,Odense University Hospital
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- Gånemo, Agneta (författare)
- Lund University,Lunds universitet,Dermatologi och venereologi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Dermatology and Venereology (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Virtanen, Marie (författare)
- Uppsala University,Uppsala universitet,Dermatologi och venereologi
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- Brandrup, Flemming (författare)
- Odense Univ Hosp, Dept Dermatol, Odense, Denmark.;Odense Univ Hosp, Allergy Ctr, Odense, Denmark.,Odense University Hospital
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- Zimmer, Andreas D. (författare)
- Univ Med Ctr, Inst Human Genet, Freiburg, Germany.,University Medical Center Freiburg
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- Hotz, Alrun (författare)
- Univ Med Ctr, Inst Human Genet, Freiburg, Germany.,University Medical Center Freiburg
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- Vahlquist, Anders (författare)
- Uppsala University,Uppsala universitet,Dermatologi och venereologi
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- Fischer, Judith (författare)
- Univ Med Ctr, Inst Human Genet, Freiburg, Germany.,University Medical Center Freiburg
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(creator_code:org_t)
- Medical Journals Sweden AB, 2016
- 2016
- Engelska.
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Ingår i: Acta Dermato-Venereologica. - : Medical Journals Sweden AB. - 0001-5555 .- 1651-2057. ; 96:7, s. 932-
- Relaterad länk:
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https://www.medicalj...
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.2...
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https://lup.lub.lu.s...
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Abstract
Ämnesord
Stäng
- Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of coz1r-nification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth, a collodion membrane or similar severe hyperkeratosis was reported in almost all patients with HI and LI, and in nearly half of patients with CIE and PI. Persistent ectropion was more common in HI (85%) and LI (57%), than in CIE (35%) and PI (5%). Anhidrosis was a frequent problem in all 4 groups (58-100%). A scoring (0-4) of ichthyosis/erythema past infancy showed widely different mean values in the subgroups: HI (3.2/3.1), LI (2.4/0.6), CIE (1.8/1.6), PI (1.1/0.3). Novel or recurrent mutations were found in 113 patients: TGM1 (n = 56), NIPAL4 (n = 15), ALOX12B (n = 15), ABCA12 (n = 8), ALOXE3 (n = 9), SLC27A4 (n = 5), CYP4F22 (n = 3), PNPLA1 (n = 1) and ABHD5 (n = 1). In conclusion, by performing a deep phenotyping and gene screening, ARCI can be definitely diagnosed in 85% of cases in Scandinavia, with a prevalence of 1: 100,000 and >8 different aetiologies.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Dermatologi och venereologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Dermatology and Venereal Diseases (hsv//eng)
Nyckelord
- ARCI
- congenital ichthyosiform erythroderma
- harlequin ichthyosis
- lamellar ichthyosis
- pleomorphic ichthyosis
- collodion baby
- ARCI
- Collodion baby
- Congenital ichthyosiform erythroderma
- Harlequin ichthyosis
- Lamellar ichthyosis
- Pleomorphic ichthyosis
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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