Conflict of interest: none declared.
Clinical dermatology •Concise report
Pseudoacromegalic facial features in Fabry disease
Article first published online: 25 JUN 2012
© The Author(s). CED © 2012 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 38, Issue 2, pages 137–139, March 2013
How to Cite
Hogarth, V., Hughes, D. and Orteu, C. H. (2013), Pseudoacromegalic facial features in Fabry disease. Clinical and Experimental Dermatology, 38: 137–139. doi: 10.1111/j.1365-2230.2012.04420.x
- Issue published online: 12 FEB 2013
- Article first published online: 25 JUN 2012
- Accepted for publication 10 March 2012
Although Fabry disease (FD) is an X-linked lysosomal storage disorder, there is a high prevalence of affected heterozygous females who show symptoms and have an increased mortality associated with the disease. FD usually progresses slowly, and death can result from stroke, heart disease or renal failure. Diagnosis can be delayed in female patients who often present with more subtle features. The classic cutaneous phenotype of ‘angiokeratoma corporis diffusum’ is less common in female patients. We report the case of a woman with a family history of FD, who showed some of the less well-recognized features of FD, including the typical ‘pseudo-acromegalic’ facial appearance. She had a deletion at exon 1 of the α-galactosidase (GLA) gene, confirming the diagnosis of FD. As is the case in 30% of women with FD, her plasma and leucocyte α-galactosidase levels were at the lower end of the normal range. At presentation, she already had symptoms and signs of end-organ damage.