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Digitale Medien

Pigmentary anomalies in ataxia–telangiectasia: a clue to diagnosis and an example of twin spotting (2001)

Khumalo, N.P. ; Joss, D.V. ; Huson, S.M. ; [weitere]

Oxford, UK : Blackwell Science Ltd

British journal of dermatology 144 (2001), S. 0

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ISSN: 1365-2133

Quelle: Blackwell Publishing Journal Backfiles 1879-2005

Thema: Medizin

Notizen: A 6-year-old girl with consanguineous parents presented with a history of progressive ataxia and patchy, segmental pigmentary changes, some reminiscent of Blaschko's lines. There was no evidence of oculocutaneous telangiectases or signs of immunodeficiency. A clinical diagnosis of ataxia–telangiectasia (AT) was suggested and confirmed by the presence of a low serum IgA, raised α-fetoprotein and chromosomal rearrangements of chromosomes 7 and 14. This case of AT is unique for having hypopigmentation and hyperpigmented patches adjacent to each other, which is a feature that has been described as ‘cutis tricolor’, and is unusual for having pigmentary skin changes, some in the lines of Blaschko without telangiectases. Clinicians should be aware that a diagnosis of AT may be made in the absence of telangiectases.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1046/j.1365-2133.2001.04029.x

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