J Dermatol 2016 Feb 1;43(2):187-9. Epub 2015 Jul 1.
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
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Am J Hum Genet 2012 Jul 14;91(1):163-70. Epub 2012 Jun 14.
Department of Dermatology, Tel Aviv Sourasky Medical Center, Israel.
Pityriasis rubra pilaris (PRP) is a papulosquamous disorder phenotypically related to psoriasis. The disease has been occasionally shown to be inherited in an autosomal-dominant fashion. To identify the genetic cause of familial PRP, we ascertained four unrelated families affected by autosomal-dominant PRP. 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
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
Acta Derm Venereol 2014 Sep;94(5):587-8
Department of Dermatology, National Taiwan University Hospital and College of Medicine, Taipei, Taiwan.