Infantile Systemic Hyalinosis: Presentation of Thick Skin and Joint Contractures in a Child with Intractable Diarrhea
Leelawadee Techasatian MD1, Piti Ungarreevittaya MD2, Pensri Kosuwon MD3
Affiliation : 1 Dermatology Division, Pediatric Department, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand 2 Pathology Department, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand 3 Gastroenterology Division, Pediatric Department, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
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
