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Pivot Concepts:
Gene/Protein
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Target Concepts:
Gene/Protein
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Query: UMLS:C0004135 (
ATM
)
13,001
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Ataxia-Telangiectasia
is a rare multisystem autosomal recessive disorder [OMIM 208900], caused by mutations in
Ataxia-Telangiectasia
Mutated gene. It is characterized by neurological, immunological and cutaneous involvement. Granulomas have been previously reported in
Ataxia-Telangiectasia
patients, even if acne rosacea has not been described.We report a case of a young
Ataxia-Telangiectasia
patient with a severe immunological and neurological involvement, who developed granulomatous skin lesions diagnosed by skin biopsy as acne rosacea. Considering the severe clinical picture and the lack of improvement to multiple topic and systemic therapies, treatment with
Isotretinoin
was started and the skin lesions disappeared after five months. However the therapy was stopped due to drug-hepatotoxicity.Systemic treatment with
Isotretinoin
should be carefully considered in patient with
Ataxia-Telangiectasia
for the treatment of multi-drug resistant acne rosacea, however its toxicity may limit long-term use and the risk/benefit ratio of the treatment should be evaluated.
...
PMID:Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin. 2588 Oct 33
