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Tyrosinaemia II
Author(s) -
Colditz Paul B.,
Yu John S.,
Billson Frank A.,
Rogers Maureen,
Molloy Hugh F.,
O'Halloran Mary,
Wilcken Bridget
Publication year - 1984
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1984.tb132765.x
Subject(s) - photophobia , medicine , presentation (obstetrics) , dermatology , ophthalmology , surgery
Four cases of tyrosinaemia type II (Richner‐Hanhart syndrome) are reported. This syndrome consists of corneal erosions, palmar and plantar hyperkeratoses, and sometimes mental retardation. Presentation with photophobia and dendritic corneal ulceration or circumscribed palmoplantar keratoderma should alert the physician to the possible diagnosis of tyrosinaemia II. Early diagnosis is important, as the clinical picture can be modified by dietary restriction.