Hypohidrotic ectodermal dysplasia

被引：1
作者：
Frank, R [1 ]
Gutz, U [1 ]
Strenge, S [1 ]
Glander, HJ [1 ]
机构：
[1] Univ Leipzig, Hautklin, D-04103 Leipzig, Germany
来源：
MONATSSCHRIFT KINDERHEILKUNDE | 1998年 / 146卷 / 06期
关键词：
ectodermal dysplasia; hypohidrotic;
D O I：
10.1007/s001120050297
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
We present a case report of a 15 year old girl suffering from a hypohidrotic ectodermal dysplasia with the symptoms of oligodontia and teeth anomalies. Her hair growth pattern was generally reduced and the Minor-sweat-test showed pathological results. On histological examination there were no sweatglands and only rudimentary adnexal structures. In the mother and sister of the patient only a hypodontia could be diagnosed. Discussion Recurring bouts of otherwise unexpliceble fever in combination with anomalies of hair and teeth suggest the possibility of hypohidrotic ectodermal dysplasia.
引用
收藏
页码：590 / 593
页数：6
相关论文
共 50 条
[31]   Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia [J].
Yapijakis, Christos ;
Gintoni, Iphigenia ;
Chrousos, George .
GENEDIS 2020: GENETICS AND NEURODEGENERATIVE DISEASES, 2021, 1339
[32]   Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia [J].
Callea, Michele ;
Yavuz, Izzet ;
Clarich, Gabriella ;
Cammarata-Scalisi, Francisco .
ARCHIVOS ARGENTINOS DE PEDIATRIA, 2015, 113 (06) :E341-E344
[33]   Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs [J].
Lewis, J. R. ;
Reiter, A. M. ;
Mauldin, E. A. ;
Casal, M. L. .
ORTHODONTICS & CRANIOFACIAL RESEARCH, 2010, 13 (01) :40-47
[34]   BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency [J].
Darbinyan, Armine ;
Major, Eugene O. ;
Morgello, Susan ;
Holland, Steven ;
Ryschkewitsch, Caroline ;
Monaco, Maria Chiara ;
Naidich, Thomas P. ;
Bederson, Joshua ;
Malaczynska, Joanna ;
Ye, Fei ;
Gordon, Ronald ;
Cunningham-Rundles, Charlotte ;
Fowkes, Mary ;
Tsankova, Nadejda M. .
ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2016, 4
[35]   Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family [J].
Chao, SC ;
Chung, CH ;
Yang, CC ;
Yang, MH ;
Lee, JYY .
JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2003, 102 (06) :412-417
[36]   Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia [J].
Dietz, Jasna ;
Kaercher, Thomas ;
Schneider, Anne-Theres ;
Zimmermann, Theodor ;
Huttner, Kenneth ;
Johnson, Ramsey ;
Schneider, Holm .
EUROPEAN JOURNAL OF PEDIATRICS, 2013, 172 (08) :1023-1031
[37]   X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease [J].
Hanawa, Yamato ;
Murasaki, Wataru ;
Ando, Tatsuya ;
Baba, Yuji ;
Namba, Hiroyuki .
MOLECULAR GENETICS AND METABOLISM REPORTS, 2025, 43
[38]   Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Caused by a Novel Mutation in EDAR Gene [J].
Ebadi, Nader ;
Javadi, Sepehr ;
Salmani, TayyebAli ;
Miryounesi, Mohammad ;
Yassaee, Vahid Reza ;
Ghafouri-Fard, Soudeh .
INTERNATIONAL JOURNAL OF PEDIATRICS-MASHHAD, 2018, 6 (01) :6899-6902
[39]   A Rare Case of Hypohidrotic Ectodermal Dysplasia in a Seven-Year-Old Child [J].
Shah, Syed Asfand Yar ;
Ul Hassan, Wajih ;
Sajjad, Waseem ;
Bin Shabbir, Usama ;
Raza, Ali .
CUREUS JOURNAL OF MEDICAL SCIENCE, 2022, 14 (04)
[40]   Hypohidrotic ectodermal dysplasia and Familial Mediterranean Fever in a child with recurrent episodes of hyperthermia [J].
Guazzarotti L. ;
Carrabba M. ;
Beretta S. ;
Zarantonello M. ;
Sani I. ;
Zuccotti G.V. ;
Fabio G. .
Pediatric Rheumatology, 13 (Suppl 1)
12345