• Users Online: 1595
  • Print this page
  • Email this page
CASE REPORT
Year : 2020  |  Volume : 11  |  Issue : 2  |  Page : 212-215

Angiokeratoma corporis diffusum: An uncommon case with suspected anderson fabry disease


1 Department of Skin and VD, Smt SCL General Hospital, Ahmedabad, Gujarat, India
2 Department of Histopathology, Fortis Escorts Heart Institute, New Delhi, India

Correspondence Address:
Pooja Agarwal
Department of Skin and VD, Smt SCL General Hospital, Ahmedabad, Gujarat
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/idoj.IDOJ_136_19

Rights and Permissions

Angiokeratomas are variable sized hyperkeratotic vascular papules that are characterized histologically by superficial dilated capillaries in papillary dermis with epidermal proliferation. They can occur as a single lesion to a generalized form (angiokeratoma corporis diffusum). Angiokeratoma corporis diffusum though initially synonymous with Anderson Fabry disease, is now known to occur in a variety of lysosomal enzyme deficiencies. We report a case of 22 year old male with angiokeratoma corporis diffusum associated with acroparesthesias, febrile episodes, sensorineural hearing loss and renal involvement. Histopathological evaluation showed characteristic ectatic blood vessels with vacuolated endothelial cells in papillary dermis. Based on the clinical evaluation and available investigations, we suspected him to be having to Anderson fabry disease. Resource constraints limited our ability to confirm our diagnosis with enzyme assay and electron microscopy. We report this unusual case in desire of re emphasizing the importance of clinical evaluation for reaching a diagnosis in a resource poor setting.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1146    
    Printed354    
    Emailed0    
    PDF Downloaded409    
    Comments [Add]    

Recommend this journal