[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)]. / To tilfaelde af Richner-Hanharts syndrom (okulokutan tyrosinaemi).
Ugeskr Laeger
; 170(8): 655, 2008 Feb 18.
Article
em Da
| MEDLINE
| ID: mdl-18364160
ABSTRACT
Richner-Hanhart syndrome or oculocutaneous tyrosinemia is characterized by painful palmo-plantar keratoderma, keratitis with photophobia and progressive mental impairment. The syndrome is caused by deficient hepatic tyrosine aminotransferase and is inherited as an autosomal recessive trait. We report a 28 year-old woman with lifelong photophobia, eye pain and painful plantar hyperkeratotic lesions, necessitating use of a wheelchair. A few days after instituting tyrosine lowering therapy, her eye symptoms disappeared and she could walk without pain. Her brother was later diagnosed with the same disease.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ceratodermia Palmar e Plantar
/
Tirosinemias
/
Ceratite
Tipo de estudo:
Etiology_studies
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
Da
Ano de publicação:
2008
Tipo de documento:
Article