Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis

Title

Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis

Creator

Landing BH; Nadorra R

Publisher

Pediatric Pathology / Affiliated With The International Paediatric Pathology Association

Date

1986

Subject

Chromosome Disorders; Female; Humans; Syndrome; infant; Skin/pathology; Genes; Recessive; Fibromatosis; Hyalin/metabolism; Chromosome Aberrations/genetics/pathology; Contracture/genetics/pathology; Gastrointestinal Diseases/pathology; Gingival/genetics/pathology; Intestinal Mucosa/pathology; Skin Diseases/pathology

Description

Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and reduced movement, joint contractures, osteoporosis, growth failure, diarrhea, and recurrent infections. Clinical onset was in the first week, and all 4 patients died by age 20 months. Infantile systemic hyalinosis appears to be a specific, presumably autosomal recessive, genetic disease, differing from the disorder called systemic hyalinosis, juvenile hyaline fibromatosis, or Puretic syndrome. The biochemical defect and the pathogenetic mechanisms responsible for the pathologic and clinical features of this condition remain to be established.
1986

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

55-79

Issue

1

Volume

6

Citation

Landing BH; Nadorra R, “Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis,” Pediatric Palliative Care Library, accessed May 19, 2022, https://pedpalascnetlibrary.omeka.net/items/show/12407.

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