Lipoid proteinosis mimicking congenital immunodeficiency: A case report

Kushal Naha, B. Ananthakrishna Shastry, Kavitha Saravu, Sumit Bhatia

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3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)155-159
Number of pages5
JournalAustralasian Medical Journal
Volume4
Issue number3
DOIs
Publication statusPublished - 11-04-2011

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All Science Journal Classification (ASJC) codes

  • Medicine(all)

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