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Case Reports
. 2011;4(3):155-9.
doi: 10.4066/AMJ.2011.635. Epub 2011 Mar 31.

Lipoid proteinosis mimicking congenital immunodeficiency: a case report

Kushal Naha  1 , Ananthakrishna B Shastry, Kavitha Saravu, Sumit Bhatia
Affiliations
Case Reports

Lipoid proteinosis mimicking congenital immunodeficiency: a case report

Kushal Naha et al. Australas Med J. 2011.

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.

Keywords: Lipoid proteinosis; congenital immunodeficiency syndrome; recurrent ulcerations.

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Conflict of interest statement

CONFLICTS OF INTEREST

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1. Facial dysmorphism with low set ears, oral lesions are observable on the dorsum of the tongue. Note coarsening of facial features due to thickening of skin.
Figure 2
Figure 2. Alopecia due to lesion on scalp.
Figure 3
Figure 3. Polydactyly evident on hands. The extra digit in the right hand was extremely small and underdeveloped; it is not seen from this particular angle. Note hyperkeratotic lesions over the knuckles.
Figure 4
Figure 4. Polydactyly evident on both feet
Figure 5
Figure 5. Hyperkeratosis and plaque-like lesions on the elbow typical of lipoid proteinosis.
Figure 6
Figure 6. Yellowish-white oral plaque-like lesions visible over dorsum of tongue.
See this image and copyright information in PMC

References

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