TY - JOUR
T1 - Lipoid proteinosis mimicking congenital immunodeficiency
T2 - A case report
AU - Naha, Kushal
AU - Shastry, B. Ananthakrishna
AU - Saravu, Kavitha
AU - Bhatia, Sumit
PY - 2011/4/11
Y1 - 2011/4/11
N2 - Lipoid proteinosis is a rare congenital disorder that can present with a variety of symptoms. A nineteen year old Indian male with dysmorphic features was admitted with a twelve year history of recurrent ulcerations over the upper limbs and oral cavity. Although the initial presentation was strongly suggestive of a congenital immune-deficiency syndrome, all investigations for immunodeficiency disorders were negative. Subsequent evaluation yielded a diagnosis of lipoid proteinosis.
AB - Lipoid proteinosis is a rare congenital disorder that can present with a variety of symptoms. A nineteen year old Indian male with dysmorphic features was admitted with a twelve year history of recurrent ulcerations over the upper limbs and oral cavity. Although the initial presentation was strongly suggestive of a congenital immune-deficiency syndrome, all investigations for immunodeficiency disorders were negative. Subsequent evaluation yielded a diagnosis of lipoid proteinosis.
UR - http://www.scopus.com/inward/record.url?scp=79953695359&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79953695359&partnerID=8YFLogxK
U2 - 10.4066/AMJ.2011.635
DO - 10.4066/AMJ.2011.635
M3 - Article
AN - SCOPUS:79953695359
SN - 1836-1935
VL - 4
SP - 155
EP - 159
JO - Australasian Medical Journal
JF - Australasian Medical Journal
IS - 3
ER -