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Image Number #4795 (Ataxia telangiectasia)

Diagnosis: Ataxia telangiectasia

Description: Telangiectasis.

Morphology: Telangiectasia

Site: Lips

Sex: F

Age: 4

Type: Clinical

Submitted By: Nameer Al-Sudany

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Differential Diagnosis
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History:

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).

DermNetNZ   eMedicine   PubMed   Dermatology Online   Archives   JAAD for "Ataxia telangiectasia"

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