Infantile systemic hyalinosis.
Infantile systemic hyalinosis (ISH) is a rare familial autosomal recessive disease of unknown etiology. The clinical features are evident either at birth or within 6 months of life. The presentation is painful progressive joint contractures, thickened skin with hyperpigmentation over prominences, small pearly facial papules, gingival hypertrophy, fleshy nodules in the perianal region, diarrhea, increased susceptibility to bone fractures, infections, and failure to thrive. This is a progressive disorder that may lead to death within first 2 years of life, mostly due to recurrent chest infection and diarrhea. Two patients with ISH, one aged 14 years and another aged 10 years, with all the clinical features, though crippled but surviving, were seen at our center. Debulking of hypertrophic gingiva and excision of some symptomatic skin masses in these patients are indicated for comfort and smooth nursing care of the patients and to allow better rehabilitation.
D000293:Adolescent; D002648:Child; D003095:Collagen Diseases / Q000378:metabolism / Q000473:pathology*; D003241:Consanguinity; D003286:Contracture / Q000473:pathology; D005260:Female; D005351:Fibromatosis, Gingival / Q000473:pathology* / Q000601:surgery; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D012871:Skin Diseases / Q000378:metabolism / Q000473:pathology / Q000601:surgery