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Image Number 2118 (Ataxia telangiectasia)


Diagnosis: Ataxia telangiectasia

Site: Lips

Sex: F

Age: 4


Description: Telangiectasis.

Submitted by: Nameer Al-Sudany

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Differential Diagnosis


Ataxia-telangiectasia (Louis–Bar syndrome) is inherited as autosomal recessive and characterized by profound neurological and immune defects associated with telangiectases. The main clinical features are: Progressive cerebellar ataxia, Telangiectases: almost always conjunctival at first, later facial or more widespread. Other skin findings include café-au-lait macules, premature graying, and sclerodermoid changes. Combined immune defects with defects in both humoral and cellular immunity, leading to multiple infections. Endocrine problems, early-onset insulin-resistant diabetes mellitus. Patients who survive infections have 100-fold increased incidence of malignancies, especially lymphoma and leukemia. 

This unfortunate child presented with cerebellar ataxia, vitiligo and telangiectasia (conjunctival and labial).

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