Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

Anders Vahlquist, Anette Bygum, Agneta Gånemo, Marie Virtanen, Maritta Hellström-Pigg, Gitte Strauss, Flemming Brandrup, Judith Fischer

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

Udgivelsesdato: 2009-Nov-5
OriginalsprogEngelsk
TidsskriftJournal of Investigative Dermatology
Vol/bind130
Sider (fra-til)438-443
ISSN0022-202X
DOI
StatusUdgivet - 5. nov. 2009

Fingeraftryk

Ichthyosis
Collodion
Mutation
Hypohidrosis
Skin
Scandinavian and Nordic Countries
Genes
Dermatology
Membranes
Cheek
DNA Sequence Analysis
Publications
Self-Healing Collodion Baby
DNA

Citer dette

Vahlquist, Anders ; Bygum, Anette ; Gånemo, Agneta ; Virtanen, Marie ; Hellström-Pigg, Maritta ; Strauss, Gitte ; Brandrup, Flemming ; Fischer, Judith. / Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients. I: Journal of Investigative Dermatology. 2009 ; Bind 130. s. 438-443.
@article{e41b5b50eb5111deaefb000ea68e967b,
title = "Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients",
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.Journal of Investigative Dermatology advance online publication, 5 November 2009; doi:10.1038/jid.2009.346.",
author = "Anders Vahlquist and Anette Bygum and Agneta G{\aa}nemo and Marie Virtanen and Maritta Hellstr{\"o}m-Pigg and Gitte Strauss and Flemming Brandrup and Judith Fischer",
year = "2009",
month = "11",
day = "5",
doi = "10.1038/jid.2009.346",
language = "English",
volume = "130",
pages = "438--443",
journal = "The Journal of Investigative Dermatology",
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Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients. / Vahlquist, Anders; Bygum, Anette; Gånemo, Agneta; Virtanen, Marie; Hellström-Pigg, Maritta; Strauss, Gitte; Brandrup, Flemming; Fischer, Judith.

I: Journal of Investigative Dermatology, Bind 130, 05.11.2009, s. 438-443.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

AU - Vahlquist, Anders

AU - Bygum, Anette

AU - Gånemo, Agneta

AU - Virtanen, Marie

AU - Hellström-Pigg, Maritta

AU - Strauss, Gitte

AU - Brandrup, Flemming

AU - Fischer, Judith

PY - 2009/11/5

Y1 - 2009/11/5

N2 - 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.Journal of Investigative Dermatology advance online publication, 5 November 2009; doi:10.1038/jid.2009.346.

AB - 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.Journal of Investigative Dermatology advance online publication, 5 November 2009; doi:10.1038/jid.2009.346.

U2 - 10.1038/jid.2009.346

DO - 10.1038/jid.2009.346

M3 - Journal article

VL - 130

SP - 438

EP - 443

JO - The Journal of Investigative Dermatology

JF - The Journal of Investigative Dermatology

SN - 0022-202X

ER -