Tyrosinemia type 2. (Richner-Hanhart syndrome). Tyrosine aminotranferase deficiency.
Incidence
AR inheritance.
Clinical Characteristics
It is an oculocutaneous syndrome.Eye lesions start during first few months of life, and consist of corneal erosion, dendritic ulcers and rarely of corneal & conjuntival plaques. Skin lesions are limited to palms & soles, initially as erosions & blisters. Later hyperkeratosis. Erythema of skin if high protein intake.Hyperkeratosis of tongue can occur. Mild to moder. MR, self-mutilation, speech defects, fine motor incoordination. Microcephaly, corneal cloudeness.
Precipitants
Excessive protein intake causes erythema of the skin.
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F