Pigmentary anomalies in ataxia--telangiectasia: a clue to diagnosis and an example of twin spotting.
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 alpha-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.
Khumalo
N P
NP
Department of Dermatology, The Churchill Hospital, Oxford OX3 7LJ, UK. n_khumalo@hotmail.com
Joss
D V
DV
Huson
S M
SM
Burge
S
S
D001260:Ataxia Telangiectasia / Q000150:complications* / Q000175:diagnosis; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010859:Pigmentation Disorders / Q000209:etiology* / Q000473:pathology