Alagille syndrome with prominent skin manifestations
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چکیده
منابع مشابه
Alagille Syndrome Associated with Xerophthalmia
PURPOSE To report the occurrence of xerophthalmia and keratomalacia in a patient with Alagille syndrome. METHODS The patient's record and relevant literature were reviewed. RESULTS A 3-year-old boy with Alagille syndrome was examined at our institution due to severe bilateral ocular irritation. A corneal ulcer and keratomalacia were found in the right eye and severe dryness with corneal opa...
متن کاملAlagille Syndrome: a Review
Alagille Syndrome (AGS) is a genetically determined multisystem disorder affecting liver, hearth, eyes, skeleton and facies, less commonly kidney and CNS. The prognosis depends on the severity of the associated anomalies. The liver pathology plays a central role in that most clinical complications are due to long standing cholestasis as a consequence of lack of bile excretion secondary to pauci...
متن کاملAlagille syndrome: clinical perspectives
Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular ab...
متن کاملWilliams syndrome presenting with findings consistent with Alagille syndrome
Conjugated hyperbilirubinemia, posterior embryotoxon, and vertebral anomalies are not features of William syndrome (WS). We herein report a preterm infant who presented with features suggestive of Alagille syndrome, but microarray showed findings consistent with WS. This further extends the phenotype of WS and emphasizes the need for microarray analysis.
متن کاملAlagille syndrome with a previously undescribed mutation.
BACKGROUND Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies. CASE CHARACTERISTICS An 8-year old child with persisting jaundice, severe itching and failure to thrive. OBSERVATION Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biops...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology and Leprology
سال: 2005
ISSN: 0378-6323
DOI: 10.4103/0378-6323.13999