ISSN - 0973-0958

Pediatric Oncall Journal


Pallab Basu, Mousumi Tripathy.
Medical College, Burdwan, Baranagar State General Hospital.

Dr. Pallab Basu, Akriti, 13, Dr. Nilmoni Sarkar street, Kolkata – 700090, West Bengal.
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
Compliance with ethical standards
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.
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