Spectrum of autosomal recessive congenital ichthyosis in scandinavia : Clinical characteristics and novel and recurrent mutations in 132 patients
(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.
(Less)
- author
- Hellström Pigg, Maritta ; Bygum, Anette ; Gånemo, Agneta LU ; Virtanen, Marie ; Brandrup, Flemming ; Zimmer, Andreas D. ; Hotz, Alrun ; Vahlquist, Anders and Fischer, Judith
- organization
- publishing date
- 2016-11-01
- 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
- pmid:27025581
- 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
- 2025-01-12 15:03:12
@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 > 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}}, keywords = {{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}}, doi = {{10.2340/00015555-2418}}, volume = {{96}}, year = {{2016}}, }