Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations

Takuya Takeichi, Kazumitsu Sugiura, Toshifumi Nomura, Taiko Sakamoto, Yasushi Ogawa, Naoki Oiso, Yuko Futei, Aki Fujisaki, Akiko Koizumi, Yumi Aoyama, Kimiko Nakajima, Yutaka Hatano, Kei Hayashi, Akemi Ishida-Yamamoto, Sakuhei Fujiwara, Shigetoshi Sano, Keiji Iwatsuki, Akira Kawada, Yasushi Suga, Hiroshi Shimizu & 2 others John A. Mcgrath, Masashi Akiyama

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Abstract

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. OBJECTIVE To further determine how often patients with PRP have pathogenic mutations in CARD14 and to elucidate which clinical subtype of PRP is caused by CARD14 mutations. DESIGN, SETTING, AND PARTICIPANTS We sequenced the entire coding regions of CARD14 in genomic DNA from patients with 5 clinical subtypes of PRP. The detailed clinical features were analyzed in all the patients. The pathogenicity of each mutation was evaluated by several computational predictions. PRP was classified into 6 subgroups, types I to VI, based on clinical criteria.We categorized all the patients with PRP into the clinical subtypes using the classic PRP classification; 22 cases of PRP with varying subtypes were studied. MAIN OUTCOMES AND MEASURES The prevalence of CARD14 mutations in each subtype of PRP was evaluated. Clinical features and characteristics of patients with PRP with CARD14 mutations were analyzed. RESULTS Overall 22 patients with PRP were included in our study (12 men, 10 women; mean [SD] age, 26 [18] years). Among 3 patients with PRP type V, all were found to have CARD14 mutations: 2 de novo novel mutations (p.Cys127Ser and p.Gln136Leu), and another previously reported mutation (p.Gly117Ser). All were close to the reported pathogenic domains. In silico analysis of all 3 mutations suggested that they are functionally relevant to pathogenesis. All 3 patients displayed unique patchy macular brown hyperpigmentation additionally to other typical features of PRP. Patients with PRP type I and type IV, 1 patient each, had the rare variants in CARD14. CONCLUSIONS AND RELEVANCE Pityriasis rubra pilaris type V is a distinct variant of PRP that is caused by CARD14 mutations. In addition, a rare variant of CARD14 might also be implicated in the pathophysiology of other forms of PRP.

Original languageEnglish
Pages (from-to)66-70
Number of pages5
JournalJAMA Dermatology
Volume153
Issue number1
DOIs
Publication statusPublished - 01-01-2017

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Pityriasis Rubra Pilaris
Mutation
Hyperpigmentation

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Takeichi, Takuya ; Sugiura, Kazumitsu ; Nomura, Toshifumi ; Sakamoto, Taiko ; Ogawa, Yasushi ; Oiso, Naoki ; Futei, Yuko ; Fujisaki, Aki ; Koizumi, Akiko ; Aoyama, Yumi ; Nakajima, Kimiko ; Hatano, Yutaka ; Hayashi, Kei ; Ishida-Yamamoto, Akemi ; Fujiwara, Sakuhei ; Sano, Shigetoshi ; Iwatsuki, Keiji ; Kawada, Akira ; Suga, Yasushi ; Shimizu, Hiroshi ; Mcgrath, John A. ; Akiyama, Masashi. / Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations. In: JAMA Dermatology. 2017 ; Vol. 153, No. 1. pp. 66-70.
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abstract = "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. OBJECTIVE To further determine how often patients with PRP have pathogenic mutations in CARD14 and to elucidate which clinical subtype of PRP is caused by CARD14 mutations. DESIGN, SETTING, AND PARTICIPANTS We sequenced the entire coding regions of CARD14 in genomic DNA from patients with 5 clinical subtypes of PRP. The detailed clinical features were analyzed in all the patients. The pathogenicity of each mutation was evaluated by several computational predictions. PRP was classified into 6 subgroups, types I to VI, based on clinical criteria.We categorized all the patients with PRP into the clinical subtypes using the classic PRP classification; 22 cases of PRP with varying subtypes were studied. MAIN OUTCOMES AND MEASURES The prevalence of CARD14 mutations in each subtype of PRP was evaluated. Clinical features and characteristics of patients with PRP with CARD14 mutations were analyzed. RESULTS Overall 22 patients with PRP were included in our study (12 men, 10 women; mean [SD] age, 26 [18] years). Among 3 patients with PRP type V, all were found to have CARD14 mutations: 2 de novo novel mutations (p.Cys127Ser and p.Gln136Leu), and another previously reported mutation (p.Gly117Ser). All were close to the reported pathogenic domains. In silico analysis of all 3 mutations suggested that they are functionally relevant to pathogenesis. All 3 patients displayed unique patchy macular brown hyperpigmentation additionally to other typical features of PRP. Patients with PRP type I and type IV, 1 patient each, had the rare variants in CARD14. CONCLUSIONS AND RELEVANCE Pityriasis rubra pilaris type V is a distinct variant of PRP that is caused by CARD14 mutations. In addition, a rare variant of CARD14 might also be implicated in the pathophysiology of other forms of PRP.",
author = "Takuya Takeichi and Kazumitsu Sugiura and Toshifumi Nomura and Taiko Sakamoto and Yasushi Ogawa and Naoki Oiso and Yuko Futei and Aki Fujisaki and Akiko Koizumi and Yumi Aoyama and Kimiko Nakajima and Yutaka Hatano and Kei Hayashi and Akemi Ishida-Yamamoto and Sakuhei Fujiwara and Shigetoshi Sano and Keiji Iwatsuki and Akira Kawada and Yasushi Suga and Hiroshi Shimizu and Mcgrath, {John A.} and Masashi Akiyama",
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Takeichi, T, Sugiura, K, Nomura, T, Sakamoto, T, Ogawa, Y, Oiso, N, Futei, Y, Fujisaki, A, Koizumi, A, Aoyama, Y, Nakajima, K, Hatano, Y, Hayashi, K, Ishida-Yamamoto, A, Fujiwara, S, Sano, S, Iwatsuki, K, Kawada, A, Suga, Y, Shimizu, H, Mcgrath, JA & Akiyama, M 2017, 'Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations', JAMA Dermatology, vol. 153, no. 1, pp. 66-70. https://doi.org/10.1001/jamadermatol.2016.3601

Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations. / Takeichi, Takuya; Sugiura, Kazumitsu; Nomura, Toshifumi; Sakamoto, Taiko; Ogawa, Yasushi; Oiso, Naoki; Futei, Yuko; Fujisaki, Aki; Koizumi, Akiko; Aoyama, Yumi; Nakajima, Kimiko; Hatano, Yutaka; Hayashi, Kei; Ishida-Yamamoto, Akemi; Fujiwara, Sakuhei; Sano, Shigetoshi; Iwatsuki, Keiji; Kawada, Akira; Suga, Yasushi; Shimizu, Hiroshi; Mcgrath, John A.; Akiyama, Masashi.

In: JAMA Dermatology, Vol. 153, No. 1, 01.01.2017, p. 66-70.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations

AU - Takeichi, Takuya

AU - Sugiura, Kazumitsu

AU - Nomura, Toshifumi

AU - Sakamoto, Taiko

AU - Ogawa, Yasushi

AU - Oiso, Naoki

AU - Futei, Yuko

AU - Fujisaki, Aki

AU - Koizumi, Akiko

AU - Aoyama, Yumi

AU - Nakajima, Kimiko

AU - Hatano, Yutaka

AU - Hayashi, Kei

AU - Ishida-Yamamoto, Akemi

AU - Fujiwara, Sakuhei

AU - Sano, Shigetoshi

AU - Iwatsuki, Keiji

AU - Kawada, Akira

AU - Suga, Yasushi

AU - Shimizu, Hiroshi

AU - Mcgrath, John A.

AU - Akiyama, Masashi

PY - 2017/1/1

Y1 - 2017/1/1

N2 - 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. OBJECTIVE To further determine how often patients with PRP have pathogenic mutations in CARD14 and to elucidate which clinical subtype of PRP is caused by CARD14 mutations. DESIGN, SETTING, AND PARTICIPANTS We sequenced the entire coding regions of CARD14 in genomic DNA from patients with 5 clinical subtypes of PRP. The detailed clinical features were analyzed in all the patients. The pathogenicity of each mutation was evaluated by several computational predictions. PRP was classified into 6 subgroups, types I to VI, based on clinical criteria.We categorized all the patients with PRP into the clinical subtypes using the classic PRP classification; 22 cases of PRP with varying subtypes were studied. MAIN OUTCOMES AND MEASURES The prevalence of CARD14 mutations in each subtype of PRP was evaluated. Clinical features and characteristics of patients with PRP with CARD14 mutations were analyzed. RESULTS Overall 22 patients with PRP were included in our study (12 men, 10 women; mean [SD] age, 26 [18] years). Among 3 patients with PRP type V, all were found to have CARD14 mutations: 2 de novo novel mutations (p.Cys127Ser and p.Gln136Leu), and another previously reported mutation (p.Gly117Ser). All were close to the reported pathogenic domains. In silico analysis of all 3 mutations suggested that they are functionally relevant to pathogenesis. All 3 patients displayed unique patchy macular brown hyperpigmentation additionally to other typical features of PRP. Patients with PRP type I and type IV, 1 patient each, had the rare variants in CARD14. CONCLUSIONS AND RELEVANCE Pityriasis rubra pilaris type V is a distinct variant of PRP that is caused by CARD14 mutations. In addition, a rare variant of CARD14 might also be implicated in the pathophysiology of other forms of PRP.

AB - 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. OBJECTIVE To further determine how often patients with PRP have pathogenic mutations in CARD14 and to elucidate which clinical subtype of PRP is caused by CARD14 mutations. DESIGN, SETTING, AND PARTICIPANTS We sequenced the entire coding regions of CARD14 in genomic DNA from patients with 5 clinical subtypes of PRP. The detailed clinical features were analyzed in all the patients. The pathogenicity of each mutation was evaluated by several computational predictions. PRP was classified into 6 subgroups, types I to VI, based on clinical criteria.We categorized all the patients with PRP into the clinical subtypes using the classic PRP classification; 22 cases of PRP with varying subtypes were studied. MAIN OUTCOMES AND MEASURES The prevalence of CARD14 mutations in each subtype of PRP was evaluated. Clinical features and characteristics of patients with PRP with CARD14 mutations were analyzed. RESULTS Overall 22 patients with PRP were included in our study (12 men, 10 women; mean [SD] age, 26 [18] years). Among 3 patients with PRP type V, all were found to have CARD14 mutations: 2 de novo novel mutations (p.Cys127Ser and p.Gln136Leu), and another previously reported mutation (p.Gly117Ser). All were close to the reported pathogenic domains. In silico analysis of all 3 mutations suggested that they are functionally relevant to pathogenesis. All 3 patients displayed unique patchy macular brown hyperpigmentation additionally to other typical features of PRP. Patients with PRP type I and type IV, 1 patient each, had the rare variants in CARD14. CONCLUSIONS AND RELEVANCE Pityriasis rubra pilaris type V is a distinct variant of PRP that is caused by CARD14 mutations. In addition, a rare variant of CARD14 might also be implicated in the pathophysiology of other forms of PRP.

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