Plantar keratoderma: a manifestation of tyrosinemia type II (Richner-Hanhart Syndrome)
نویسندگان
چکیده
منابع مشابه
Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.
Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine aminotransferase enzyme. We report a 15-year-old female patient with complaints of bilateral photophobia and tearing, which started during the infancy period. Biomicroscopic examination revealed bilateral circular corneal opacities ...
متن کاملPlantar keratoderma of Sézary syndrome
Sézary syndrome is an extremely rare form of cutaneous T-cell lymphoma. It presents suddenly and is associated with a poor prognosis. Clinical recognition is crucial for the diagnostic process and initiation of appropriate treatment. Plantar keratoderma is usually pathognomonic for Sézary syndrome and clinicians should be alerted to its presence.
متن کاملCorneal lesion as the initial manifestation of tyrosinemia type II.
Tyrosinemia type II (Richner-Hanhart syndrome) is a rare autosomal recessive disease with deficiency of tyrosine aminotransferase and subsequently increasing level of serum tyrosine. We report the case of a 2-year-old girl who was referred due to bilateral corneal lesions. Slit-lamp examination showed small granular white deposits arranged in a dendritic pattern in the superficial central corne...
متن کاملPseudoherpetic keratitis. Corneal changes in circumscribed palmo-plantar keratoderma.
The association of herpetoid corneal changes with circumscribed palmo-plantar keratoderma was first described by Richner (I938). Hanhart (1947) suggested that this represented a recessively inherited ectodermal syndrome, and the condition is sometimes called the Richner-Hanhart syndrome. Subsequent reports have been relatively few: Cremona (I 957); Kuske (I959); Franceschetti and Thier (I96I); ...
متن کاملtwo cases of tyrosinemia type ii, and its rare occurrence in two brothers
tyrosinemia type ii is a rare autosomal recessive disorder wich can present itself with recurrent epithelial keratitis, hyperkeratotic skin lesions and mental retardation. this article reports the rare occurrence of this disease in both offsprings (two brothers) of a family (consanguinous'marriage) who were managed with a lowprotein diet and a special regimen.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Annals of Saudi Medicine
سال: 2005
ISSN: 0256-4947,0975-4466
DOI: 10.5144/0256-4947.2005.422