The authors report a case of infantile systemic hyalinosis [ISH] in a 9-month-old female infant who presented with generalized thickening of the skin with progressive joint contractures. The patient also had intractable diarrhea due to protein-losing enteropathy. Other typical findings included gum hypertrophy, hyperpigmentation of the skin above the proximal inter-phalangeal (PIP) joints, and cutaneous nodules on the perianal area. Skin biopsy manifested the deposition of amorphous hyaline material in the dermal layer, confirming the pathogenesis of ISH.

Keywords: Thick skin, Joint contractures, Intractable diarrhea, Perianal nodules, Gum hypertrophy, ANTXR2, Gene