HYPOHIDROTIC ECTODERMAL DYSPLASIA {CHRIST-SIEMENS-TOURAINE SYNDROME}

 
print
Question :
Pallab Basu, Mousumi Tripathy
Medical College, Burdwan, Baranagar State General Hospital, India.

Address for Correspondence: Dr. Pallab Basu, Akriti, 13, Dr. Nilmoni Sarkar street, Kolkata – 700090, West Bengal. E-mail: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_?
Expert Opinion :
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

Correct Answers : yes  47%

Last Shown : Feb 2009
 
WSPID 2017
Ask a Doctor
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.