Back issues No.3 - 2001 / Case Report  
 
 

Full Text PDF

 

Fucosidosis Type 2
Hung-Jen Chang, Mei-Eng Tu, Hsiu-Chin Chen, Hsin-Yi Su, Shuan-Pei Lin
Dermatol Sinica 19: 225-232, 2001

Fucosidosis is a rare lysosomal storage disease resulting from deficiency ofα-L-fucosidase. The accumulation of fucose-containing glycolipids and glycoproteins in various tissues gradually induces progressive psychomotor deterioration, growth retardation, and special skin presentation, namely, angiokeratoma corporis diffusum. Fucosidosis has autosomal recessive inheritence. Less than 100 cases were reported worldwide till now. We report a 17-year-old girl who suffered from short stature, severe mental retardation, coarse facies, recurrent upper respiratory tract infections since early childhood. Diffuse petechiae and rice-sized to pea-sized purpuric papules appeared on the trunk since then and gradually became generalized. Skin biopsy revealed angiokeratoma. Pale nailbed and a transverse purple band at distal part of all finger nails were also noted. The α-L-fucosidase activity of leukocytes was extremely low (0.5μmol/g/hr(50-200)). We diagnose her as a case of fucosidosis.

   
   
 
 
You are visitors    
Copyright © 2008 THE Taiwanese Dermatological Association. All Rights Reserved. Email: dermatol.sinica@gmail.com Tel:886-2-2518-5126~7 Fax:886-2-2518-5128