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Am J Med Genet A. 2004 Sep 1;129A(3):282-5.

Infantile systemic hyalinosis: a clinicopathological study.

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Dysmorphology Unit, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain.


Infantile systemic hyalinosis (ISH) is a presumed autosomal recessive connective tissue condition. Symptoms usually begin at birth or shortly thereafter, and are characterized by pain when handled, painful and swollen joints and, later on, dermal anomalies, diarrhea, failure to thrive and recurrent infections, which usually lead to death around the age of 2. The skin has generally diminished elasticity with small pearly papules appearing on neck, ears, coccygeal region, and face. We present two unrelated patients with ISH, with specific focus on clinical and pathologic studies. In the first patient the diagnosis was made several years after she died, in a retrospective study of her clinical file. On ultrastructural examination both patients showed an accumulation of fibrillogranular material in the extracellular matrix with long-spacing collagen of 90 nm. The first child died at the age of 1(1/2) years and the second at 3 years.

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