Keratoderma, Palmoplantar, Tyrosinemia Type 2 - DermAtlas

Contributor

Annie Rambaud-Cousson

Diagnosis

keratoderma, palmoplantar tyrosinemia type 2

Body Site

sole foot

Age

7 years

Pigmentation

medium

Organization

patchy

Color

yellow

Morphology

papulosquamous (bump, scale)

Pattern

symmetric acral (centripetal - extremity predominant)

Comments

This 7-year-old boy was evaluated for a chronic keratoderma which was first noted at 4 years of age. Tyrosinemia type 2 is due to deficiency of the hepatic enzyme tyrosine aminotransferase. The gener for this enzyme is located on chromosome 16q22.1-22.3. Patients usually present in childhood with chronic recurrent keratitis, corneal ulcerations, variable mental retardation, and painful striate keratoderma. Early intervention with a low protein, tyrosine supplemented diet can result in improvement in the keratoderma and prevention of permanent visual impairment and progrressive mental retardation.

Description

symmetric thick scaly plaques

Image Added

12/14/2004 22:32:00

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PubMed Medline Plus Medscape

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