Ocular Complications of a Patient with Christ-Siemens-Touraine Syndrome
Scherer M., Hartmann C., Rieck P.
University Eye Hospital, Charité, Humboldt University Berlin
Purpose: Christ-Siemens-Touraine (CST) syndrome is the most frequent form of hypohidrotic ectodermal dysplasia. The disorder follows a X-linked mode of inheritance (chromosomal localisation: Xq12-q13.1). The CST syndrome is characterized by hypotrichosis, hypodontia, onychodysplasia and hypohidrosis. The latter may lead to life-threatening complications. On the basis of an ocular surface disorder corneal complications may result like in other forms of ectodermal dysplasia.
Results: Case report: We report on a 6 year old patient in whom the mutation has been detected recently. He was suffering from recurrent keratoconjunctivitis since birth, but was not treated for this surface disorder on regular basis. He first presented in our department with an infectious corneal ulcer one year ago, which was treated with local antibiotics and resulted in a corneal scar. Further ocular manifestations included diffuse peripheral subepithelial opacities and epithelial disturbances. Also an hyposecretion of tears was found whereas corneal sensibility was normal. The superior lacrimal points were dysplactic and a polytrichosis was found.
Conclusions: To avoid corneal complications in patients with Christ-Siemens-Touraine syndrome ophthalmologic examinations should be performed as well as artificial tear drops should be taken on regular basis.
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