AUTOSOMAL RECESSIVE ECTODERMAL DYSPLASIA

被引：0
|
作者：
LELIS, J [1 ]
机构：
[1] VILNIUS STATE UNIV, VILNIUS 232024, LITHUANIA
来源：
CUTIS | 1992年 / 49卷 / 06期
关键词：
D O I：
暂无
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
Seven cases of a peculiar autosomal recessive ectodermal dysplasia as a distinct nosologic entity are presented. The main symptoms of this rare, not fully delineated syndrome, are hypohidrosis, xeroderma, hypotrichosis, dystrophy of the teeth, benign acanthosis nigricans, and furrowed tongue. Other symptoms can include mental retardation, nail dystrophy, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma), and palmoplantar keratosis.
引用
收藏
页码：435 / 437
页数：3
相关论文
共 50 条
  • [41] NEW, AUTOSOMAL DOMINANT FORM OF ECTODERMAL DYSPLASIA
    TUFFLI, GA
    LAXOVA, R
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 14 (02): : 381 - 384
  • [42] Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia
    Mehmood, S.
    Raza, S. I.
    Van Bokhoven, H.
    Ahmad, W.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2017, 42 (05) : 585 - 589
  • [43] Mutations in the human homolog of the murine dl gene cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
    Zonana, J
    Headon, DJ
    Monreal, AW
    Street, SL
    Overbeek, PA
    Ferguson, BM
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A34 - A34
  • [44] Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
    Jackson, Adam
    Lin, Sheng-Jia
    Jones, Elizabeth A.
    Chandler, Kate E.
    Orr, David
    Moss, Celia
    Haider, Zahra
    Ryan, Gavin
    Holden, Simon
    Harrison, Mike
    Burrows, Nigel
    Jones, Wendy D.
    Loveless, Mary
    Petree, Cassidy
    Stewart, Helen
    Low, Karen
    Donnelly, Deirdre
    Lovell, Simon
    Drosou, Konstantina
    Varshney, Gaurav K.
    Banka, Siddharth
    HUMAN GENETICS AND GENOMICS ADVANCES, 2023, 4 (02):
  • [45] Anhidrotic ectodermal dysplasia as autosomal recessive trait in one Ewe isolate at Togo (33 cases in 23 families)
    Gnamey, DK
    Kpégba, AKG
    ARCHIVES DE PEDIATRIE, 2003, 10 (11): : 1007 - 1007
  • [46] A Novel Splice Site Mutation in the EDAR Gene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family
    Wasif, Naveed
    Tariq, Muhammad
    Ali, Ghazanfar
    Hassan, Muhammad Jawad
    Ahmad, Wasim
    PEDIATRIC DERMATOLOGY, 2010, 27 (01) : 106 - 108
  • [47] AUTOSOMAL RECESSIVE CLEFT-LIP PALATE, ECTODERMAL DYSPLASIA, AND MINOR ACRAL ANOMALIES - REPORT OF A BRAZILIAN FAMILY
    RICHIERICOSTA, A
    GUIONALMEIDA, ML
    FREIREMAIA, N
    PINHEIRO, M
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02): : 158 - 162
  • [48] Mutations in the grainyhead-like 2 transcription factor result in a novel autosomal recessive ectodermal dysplasia syndrome
    Petrof, G.
    Nanda, A.
    Simpson, M. A.
    Takeichi, T.
    McMillan, J.
    Ozoemena, L.
    Begum, R.
    Al-Ajmi, H.
    Parsons, M.
    McGrath, J. A.
    BRITISH JOURNAL OF DERMATOLOGY, 2014, 170 (04) : E40 - E40
  • [49] Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia
    Wohlfart, Sigrun
    Schneider, Holm
    CLINICAL GENETICS, 2019, 95 (03) : 427 - 432
  • [50] AN AUTOSOMAL RECESSIVE ECTODERMAL DYSPLASIA SYNDROME OF HYPOTRICHOSIS, ONYCHODYSPLASIA, HYPER-KERATOSIS, KYPHOSCOLIOSIS, CATARACT, AND OTHER MANIFESTATIONS
    ALVES, AFP
    DOSSANTOS, PAB
    CASTELOBRANCONETO, E
    FREIREMAIA, N
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1981, 10 (03): : 213 - 218
12345