Abstract
Infantile systemic hyalinosis (ISH) is a rare disorder characterized by hyaline deposition in the skin as well as visceral organs. Though commonly associated with a protein losing enteropathy (PLE) and loss of immunoglobulins, the profile of cellular and humoral branches of the immune system has not previously been described. We describe the immune system deficits in a case of ISH associated with PLE and infections. A history of multiple infections prompted an immunocompetency evaluation in a patient with ISH and PLE. Low immunoglobulin G (IgG), poorly protective pneumococcal titers, and nonresponse to Candida on lymphocyte transformation in the face of increasing infections lead to the diagnosis of a combined immunodeficiency. This is the first case report detailing quantitative and qualitative deficits of the humoral and cellular branches of the immune system in a patient with ISH. The understanding of the different aspects of this disease including the immune deficits impacts not only prognosis but also end-of-life decisions as well.
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