MOST LIKELY DIAGNOSIS: Lipoid proteinosis
This 42-year-old woman’s brain is affected by a very rare condition. Are you familiar with it?
The rare diagnosis in this case is lipoid proteinosis, also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae. This is an exceedingly rare condition with only several hundred cases known around the world. It results from the formation of small clumps or deposits of proteins and/or molecules in various tissues throughout the body. The deposits affect skin, eyelids, mucous membranes and often present with hoarseness due to deposition in vocal cords. Bead-like bumps along the eyelash line known as moniliform blepharosis are characteristic. Typical brain features include calcific deposits in the temporal lobes, as seen in this case highlighted in green. The condition is inherited as autosomal recessive and is seen most classically in descendants of German immigrants in South Africa.
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Content reviewed: July 23, 2021