ISSN - 0973-0958
https://www.pediatriconcall.com/Journal/images/journal_cover.jpg
   
 
HYPOHIDROTIC ECTODERMAL DYSPLASIA {CHRIST-SIEMENS-TOURAINE SYNDROME}
Pallab Basu, Mousumi Tripathy.
Medical College, Burdwan, Baranagar State General Hospital.

Cite this article  Copy Citation
Basu P, Tripathy M. Hypohidrotic Ectodermal Dysplasia (Christ-siemens-Touraine Syndrome). Pediatr Oncall J. 2009;6: 18.

Address for Correspondence
Dr. Pallab Basu, Akriti, 13, Dr. Nilmoni Sarkar street, Kolkata – 700090, West Bengal.

Email
drpallabbasudch@gmail.com

The boy has frontal bossing, flattened nasal bridge, thick everted lips, hyperpigmented periorbital skin, prominent ears, anodontia, sparse and unruly hairs, absent eyebrows and lashes.

Spot the diagnosis?

 
This syndrome, being inherited as X- inherited recessive trait with full expression in male, and with disturbances in the tissues derived from ectoderm usually, present with triad of defects: partial or complete absence of sweat glands, anomalous or absent dentition, and hypotrichosis. They also present with typical facies of with frontal bossing, malar hypoplasia, flattened nasal bridge, thick, everted lips, hyperpigmented periorbital skin, and prominent low set ears. The skin over the entire body is dry, finely wrinkled, and hypopigmented often with a prominent venous pattern. The hair is sparse, unruly, and lightly pigmented and eyebrow and lashes are sparse or absent. Less commonly stenotic lacrimal puncta, corneal opacity, cataracts, hypoplastic or absent mammary glands, conductive hearing loss, atopic diseases, poorly developed mucous glands leading to purulent rhinitis, dyspnoea, dysphagia, diarrhoea and recurrent respiratory infections. Hypoplasia or absent eccrine glands may be diagnosed by skin biopsy.

E-published: March 2009, Vol 6 Issue 3 Art # 15
 
Funding: None
 
Conflict of Interest: None
 
Cite this article as :
Basu P, Tripathy M. Hypohidrotic Ectodermal Dysplasia (Christ-siemens-Touraine Syndrome). Pediatr Oncall J. 2009;6: 18.
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0