Case of palmoplantar keratoderma with sensorineural deafness and mental retardation that may be another variant of syndromic palmoplantar keratoderma

被引:1
|
作者
Utsumi, Daisuke [1 ]
Hanashiro, Fukuko [1 ]
Miyagi, Takuya [1 ]
Yamamoto, Yuichi [1 ]
Uezato, Hiroshi [1 ]
Takahashi, Kenzo [1 ]
机构
[1] Univ Ryukyus, Dept Dermatol, Fac Med, Nishihara, Okinawa 9030215, Japan
来源
JOURNAL OF DERMATOLOGY | 2013年 / 40卷 / 07期
关键词
MUTATIONS;
D O I
10.1111/1346-8138.12156
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:579 / 580
页数:34
相关论文
共 50 条
  • [31] A case of acrodermatitis enteropathica mimicking mutilating palmoplantar keratoderma
    Behera, Binodini
    Mohapatra, Liza
    Sahu, Bharati
    Patnaik, Monali
    INDIAN JOURNAL OF DERMATOLOGY, 2022, 67 (03) : 314
  • [32] Aquagenic palmoplantar keratoderma: a case report and literature review
    Desai, S.
    Halpern, S.
    BRITISH JOURNAL OF DERMATOLOGY, 2008, 159 : 30 - 30
  • [34] Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness
    Sevior, KB
    Hatamochi, A
    Stewart, IA
    Bykhovskaya, Y
    Allen-Powell, DR
    Fischel-Ghodsian, N
    Maw, MA
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1998, 75 (02): : 179 - 185
  • [35] Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant
    Bedoukian, Emma C.
    Rentas, Stefan
    Skraban, Cara
    Shao, Qing
    Treat, James
    Laird, Dale W.
    Sullivan, Kathleen E.
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (02):
  • [36] Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26
    Lee, Jae Yeol
    In, Sung-Il
    Kim, Hyon J.
    Jeong, Seon-Yong
    Choung, Yun Hoon
    Kim, You Chan
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2010, 25 (10) : 1539 - 1542
  • [37] Connexin 26 missense mutation resulting in syndromic hearing loss with palmoplantar keratoderma
    Lam, Mun W.
    Veitch, David
    Woo, Pick N.
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2020, 59 (12) : E454 - E455
  • [38] Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    David P Kelsell
    Amanda L Wilgoss
    Gabriela Richard
    Howard P Stevens
    Colin S Munro
    Irene M Leigh
    European Journal of Human Genetics, 2000, 8 : 468 - 468
  • [39] A CASE OF AQUAGENIC PALMOPLANTAR KERATODERMA IN A SCHOOL-AGED MALE
    H, D.
    Bingemann, T.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2023, 131 (05) : S190 - S191
  • [40] A Case of Hereditary Palmoplantar Keratoderma Associated with Primary Digital Clubbing
    Yorulmaz, Ahu
    Kilinc, Fadime Yanar
    Emre, Selma
    Yavuz, Huban Sibel Orhun
    TURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY, 2010, 4 (03): : 71 - 74