Format

Send to

Choose Destination
J Invest Dermatol. 2013 Nov;133(11):2514-2521. doi: 10.1038/jid.2013.230. Epub 2013 May 22.

The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

Author information

1
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: kazusugi@med.nagoya-u.ac.jp.
2
Department of Dermatology, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.
3
Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
4
Department of Dermatology, Sumitomo Hospital, Osaka, Japan.
5
Department of Dermatology, Ichinomiya City Hospital, Ichinomiya, Japan.
6
Department of Dermatology, Mie University Graduate School of Medicine, Tsu, Japan.
7
Department of Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
8
Department of Dermatology, Chiba University Graduate School of Medicine, Chiba, Japan.
9
Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
10
Department of Dermatology, Anjo Kosei Hospital, Anjo, Japan.
11
Department of Dermatology, Azumi General Hospital, Kitaazumi, Japan.
12
Department of Dermatology, National Hospital Organization, Nagoya Medical Center, Nagoya, Japan.
13
Department of Division for Medical Research Engineering, Nagoya University Graduate School of Medicine, Nagoya, Japan.
14
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Dermatology, Inazawa City Hospital, Inazawa, Japan.
15
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
16
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: makiyama@med.nagoya-u.ac.jp.

Abstract

Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening. Recently, it has been reported that familial GPP is caused by homozygous or compound heterozygous mutations of IL36RN. However, the majority of GPP cases are sporadic and it is controversial whether IL36RN mutations are a causative/predisposing factor for sporadic GPP. We searched for IL36RN mutations in two groups of GPP patients in the Japanese population in this study: GPP without psoriasis vulgaris (PV), and GPP with PV. Eleven cases of GPP without PV (GPP alone) and 20 cases of GPP accompanied by PV (GPP with PV) were analyzed. Surprisingly, 9 out of 11 cases of GPP alone had homozygous or compound heterozygous mutations in IL36RN. In contrast, only 2 of 20 cases of GPP with PV had compound heterozygous mutations in IL36RN. The two cases of GPP with PV who had compound heterozygous mutations in IL36RN are siblings, and both cases had PV-susceptible HLA-A*0206. We determined that GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of GPP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.

PMID:
23698098
DOI:
10.1038/jid.2013.230
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center