Nihon Rinsho Meneki Gakkai Kaishi 2017 ;40(3):169-173
Department of Dermatology, Fujita Health University School of Medicine.
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J Dermatol Sci 2014 Jun 5;74(3):187-92. Epub 2014 Mar 5.
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:
Generalized pustular psoriasis (GPP) is often present in patients with existing or prior psoriasis vulgaris (PV; "GPP with PV"). However, cases of GPP have been known to arise without a history of PV ("GPP alone"). There has long been debate over whether GPP alone and GPP with PV are distinct subtypes that are etiologically different from each other. Read More
J Dermatol 2016 Feb 1;43(2):187-9. Epub 2015 Jul 1.
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Some familial cases of pityriasis rubra pilaris (PRP) have the CARD14 gene mutations that are also detected in familial psoriasis vulgaris. However, genotype-phenotype correlation in these two entities is poorly understood. Here, we report a case of PRP with a new mutation in CARD14. Read More
J Invest Dermatol 2015 Dec 23;135(12):2964-2970. Epub 2015 Jul 23.
St John's Institute of Dermatology, King's College London, London, UK. Electronic address:
Caspase recruitment family member 14 (CARD14, also known as CARMA2), is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Gain-of-function CARD14 mutations have been documented in familial forms of psoriasis vulgaris (PV) and pityriasis rubra pilaris (PRP). More recent investigations have also implicated CARD14 in the pathogenesis of pustular psoriasis. Read More
JAMA Dermatol 2017 Jan;153(1):66-70
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Importance: We found CARD14 mutations (2 de novo novel mutations and another previously reported mutation) in 3 of 3 patients with pityriasis rubra pilaris (PRP) type V, but not in patients with PRP of other types. Our findings, combined with the published literature, suggest that type V PRP, both familial and sporadic, can be caused by CARD14 mutations. Detailed clinical observation revealed that all 3 patients displayed unique patchy macular brown hyperpigmentation. Read More