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Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
Odense Univ Hosp, Dept Dermatol, Odense, Denmark.;Odense Univ Hosp, Allergy Ctr, Odense, Denmark..
Lund Univ, Skane Univ Hosp, Inst Clin Res Malmo, Dept Dermatol, Malmo, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Dermatology and Venereology.
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2016 (English)In: Acta Dermato-Venereologica, ISSN 0001-5555, E-ISSN 1651-2057, Vol. 96, no 7, p. 932-+Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2016. Vol. 96, no 7, p. 932-+
Keywords [en]
ARCI, congenital ichthyosiform erythroderma, harlequin ichthyosis, lamellar ichthyosis, pleomorphic ichthyosis, collodion baby
National Category
Dermatology and Venereal Diseases
Identifiers
URN: urn:nbn:se:uu:diva-308896DOI: 10.2340/00015555-2418ISI: 000386473400013PubMedID: 27025581OAI: oai:DiVA.org:uu-308896DiVA, id: diva2:1051290
Funder
Swedish Research CouncilGerman Research Foundation (DFG), FI1767/3-1Available from: 2016-12-01 Created: 2016-12-01 Last updated: 2017-11-29Bibliographically approved

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Pigg, Maritta H.Virtanen, MarieVahlquist, Anders

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