A ‘Missed’ Diagnosed Case of Christ-Siemens-Touraine Syndrome

Authors

  • Shambhavi Narayan S.M.S. Medical College, Jaipur, Rajasthan

DOI:

https://doi.org/10.3126/jnps.v37i1.16247

Keywords:

hyperthermia, alopecia

Abstract

Christ-Siemens-Touraine syndrome also known as Anhidrotic ectodermal dysplasia, is a rare genetic disorder, occurring in 1-100,000 live male births. A two year old male child with classical signs and symptoms of the disease, affecting skin, hairs, nails and teeth, misdiagnosed initially as a case of seborrhic dermatitis, and later as tuberculosis, is described here. Treatment includes counselling the family, skin care, avoiding high ambient temperature, and prosthodontic measures. Diagnosis as early as possible, based mainly on clinical features can prevent mortality due to hyperpyrexia and respiratory infections. Beyond early childhood, life expectancy is normal to slightly reduced.

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Author Biography

Shambhavi Narayan, S.M.S. Medical College, Jaipur, Rajasthan

Senior Resident in Department of Pediatrics

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Additional Files

Published

2017-10-04

How to Cite

Narayan, S. (2017). A ‘Missed’ Diagnosed Case of Christ-Siemens-Touraine Syndrome. Journal of Nepal Paediatric Society, 37(1), 83–85. https://doi.org/10.3126/jnps.v37i1.16247

Issue

Vol. 37 No. 1 (2017)

Section

Case Reports

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