Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification

Dermatological examination revealed sharply demarcated, yellowish hyperkeratotic plaques localized to pressure bearing areas on both plantar surfaces and the palmar surface of her fingertips [Figure 1]a and [Figure 2]a. The lesions were tender to palpation and accompanied by hyperhidrosis. Sequencin...

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Bibliographic Details
Published in:Indian journal of dermatology, venereology, and leprology venereology, and leprology, 2015-05, Vol.81 (3), p.303
Main Authors: Tekin, Burak, Yucelten, Deniz, Zeybek, Cigdem A, Kiykim, Ertugrul, Wehner, Maria, Betz, Regina C, Toker, Ayse E
Format: Article
Language:English
Subjects:
Child
Delayed Diagnosis
Feeding Behavior
Female
Humans
Intelligence tests
Metabolism
Mutation
Pain
Skin
Treatment Outcome
Tyrosinemias - diagnosis
Tyrosinemias - diet therapy
Ulcers
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Summary:Dermatological examination revealed sharply demarcated, yellowish hyperkeratotic plaques localized to pressure bearing areas on both plantar surfaces and the palmar surface of her fingertips [Figure 1]a and [Figure 2]a. The lesions were tender to palpation and accompanied by hyperhidrosis. Sequencing of the complete coding region of the cytoplasmic tyrosine aminotransferase (TAT) gene revealed the known mutation c.355C>T (p.R119W) (the mutation was homozygous in the patient and heterozygous in both parents).
ISSN:0378-6323
0973-3922
1998-3611
DOI:10.4103/0378-6323.152744