Lipoid Proteinosis Workup

Updated: Apr 17, 2017
  • Author: Dirk M Elston, MD; Chief Editor: William D James, MD  more...
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Workup

Laboratory Studies

No laboratory findings are consistently abnormal. The erythrocyte sedimentation rate may be elevated and is thought to be a result of increased production of alpha- and beta-globulins.

Polymerase chain amplification and direct nucleotide sequencing of the ECM1 gene can confirm the diagnosis.

Immunolabeling of affected tissue with polyclonal antibodies against the ECM1 protein may provide a faster, more efficient way of detecting mutations in the near future. [14]

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Imaging Studies

A pathognomonic finding on plain radiographs and CT scans of the brain is bilateral, intracranial, bean-shaped calcifications within the hippocampal region of the temporal lobes.

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Other Tests

Porphyria should be excluded with appropriate blood and urine screening.

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Procedures

Skin biopsy of affected cutaneous or mucosal sites confirms the diagnosis in most cases.

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Histologic Findings

Early lesions have eosinophilic hyaline thickening of papillary dermal capillaries. Later, hyperkeratosis is present, and the papillary dermis is widened by hyaline material arranged perpendicular to the basement membrane zone. Hyaline deposits may be arranged around the hair follicles, eccrine glands, sebaceous glands, and arrector pili muscles and nerves in an onionskin arrangement. The hyaline material stains positively with periodic acid-Schiff stain and is resistant to diastase. It also stains positively with colloidal iron and Alcian blue at a pH of 2.5 and with Sudan black and oil red O.

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