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Spectrum of autosomal recessive congenital ichthyosis in scandinavia : Clinical characteristics and novel and recurrent mutations in 132 patients

Hellström Pigg, Maritta; Bygum, Anette; Gånemo, Agneta LU ; Virtanen, Marie; Brandrup, Flemming; Zimmer, Andreas D.; Hotz, Alrun; Vahlquist, Anders and Fischer, Judith (2016) In Acta Dermato-Venereologica 96(7). p.932-937
Abstract

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of coz1rnification 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... (More)

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of coz1rnification 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.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
ARCI, Collodion baby, Congenital ichthyosiform erythroderma, Harlequin ichthyosis, Lamellar ichthyosis, Pleomorphic ichthyosis
in
Acta Dermato-Venereologica
volume
96
issue
7
pages
6 pages
publisher
Medical Journals Limited
external identifiers
  • scopus:84992751267
  • wos:000386473400013
ISSN
0001-5555
DOI
10.2340/00015555-2418
language
English
LU publication?
yes
id
426659cd-4f30-4b7a-9293-cb1e45a53329
date added to LUP
2016-11-14 09:31:22
date last changed
2017-09-24 05:03:04
@article{426659cd-4f30-4b7a-9293-cb1e45a53329,
  abstract     = {<p>Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of coz1rnification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4<sup>th</sup> 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 &gt; 8 different aetiologies.</p>},
  author       = {Hellström Pigg, Maritta and Bygum, Anette and Gånemo, Agneta and Virtanen, Marie and Brandrup, Flemming and Zimmer, Andreas D. and Hotz, Alrun and Vahlquist, Anders and Fischer, Judith},
  issn         = {0001-5555},
  keyword      = {ARCI,Collodion baby,Congenital ichthyosiform erythroderma,Harlequin ichthyosis,Lamellar ichthyosis,Pleomorphic ichthyosis},
  language     = {eng},
  month        = {11},
  number       = {7},
  pages        = {932--937},
  publisher    = {Medical Journals Limited},
  series       = {Acta Dermato-Venereologica},
  title        = {Spectrum of autosomal recessive congenital ichthyosis in scandinavia : Clinical characteristics and novel and recurrent mutations in 132 patients},
  url          = {http://dx.doi.org/10.2340/00015555-2418},
  volume       = {96},
  year         = {2016},
}