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TAT-pEDD

Previously: Oculocutaneous tyrosinaemia (tyrosinaemia type II)

pEDD Gene: TAT AR
Onset: Early childhood
Pathway: Enzymes and their inhibitors
Category Paper: pEDD Paper
TAT-pEDD: fingertip hyperkeratosis following the dermatoglyphics and well-demarcated focal, plantar calluses.

TAT-pEDD: fingertip hyperkeratosis following the dermatoglyphics and well-demarcated focal, plantar calluses.

Key Clinical Clues

Photophobia, corneal opacities; painful keratoderma along dermatoglyphics.

Additional Cutaneous Features

Painful keratoderma distributed along dermatoglyphics on the finger tips and focal on palmar and plantar surface, may begin as bullae and erosions, sometimes associated with hypotrichosis

Additional Extracutaneous Features

Photophobia, early eye involvement with painful, tearing conjunctivitis and later corneal opacities with ulceration and glaucoma, risk of intellectual disability (ID)

Treatment

Diet restricted in phenylalanine and tyrosine.

References

Natt E, Kida K, Odievre M et al. Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. Proc Natl Acad Sci USA 1992; 89:9297-301.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer

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