5 rezultātiem
A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias,
Fabry Disease (FD) is an X-linked lysosomal storage disorder (prevalence about 1 : 100 000) caused by a genetic defect associated with a lack of alpha-galactosidase A (alpha-GAL) enzyme activity. As a consequence, neutral glycosphingolipides can not be cleaved and metabolized, and accumulate in
BACKGROUND
Port-wine stains or capillary malformations are generally congenital. Very few cases of acquired port-wine stains in adults have been described, and these occur particularly after trauma.
METHODS
We report three cases of acquired port-wine stains and we performed a review of the
Fabry disease (FD) is a debilitating progressive multisystem X-linked lysosomal storage disorder. It was generally believed that the disease affects only adult males. Through systematic pedigree analysis, we identified 35 paediatric FD patients (age 1 to 21 years, mean 12.6 years) in 25 families.
BACKGROUND
The authors present their experience using an established chemotherapeutic agent as a scarless treatment for vascular birthmarks. One hundred sixty-four of more than 600 patients seen in the authors' center received intralesional bleomycin injection over 5 years.
METHODS
Patient