Related Experiment Video

Updated: Jul 28, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs

S M Al-Mayouf1, A AlMehaidib, S Bahabri

  • 1Section of Pediatric Rheumatology, Department of Pediatrics, MBC-58, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. mayouf@kfshrc.edu.sa

Clinical and Experimental Rheumatology
|September 22, 2005
PubMed

Insights

Infantile systemic hyalinosis (ISH) is a severe genetic disorder presenting in newborns, often misdiagnosed. This study highlights its high prevalence in Saudi Arabia and among Arab populations, with poor treatment outcomes.

Area of Science:

  • Pediatrics
  • Genetics
  • Dermatology

Background:

  • Infantile systemic hyalinosis (ISH) is a rare, severe genetic disorder.
  • Clinical presentation often includes joint contractures, mucocutaneous changes, and growth failure.
  • Genetic predisposition, including consanguinity, is noted in affected families.

Purpose of the Study:

  • To describe the clinical characteristics, diagnostic challenges, and outcomes of infantile systemic hyalinosis.
  • To determine the prevalence and commonality of ISH in Saudi Arabia and among Arab populations.
  • To evaluate the effectiveness of current management strategies for ISH.

Main Methods:

  • Retrospective review of 19 patients diagnosed with ISH at a tertiary care hospital.
  • Analysis of clinical presentations, diagnostic findings, family history, and treatment outcomes.
  • Review of radiological and histopathological data.

Main Results:

  • Most patients (83.3%) presented neonatally, with frequent misdiagnosis (73.7%).
  • Common findings included joint contractures, mucocutaneous lesions, growth failure, and hypoalbuminemia (72%).
  • Aggressive management showed no improvement, with a high mortality rate (16/19 patients).

Conclusions:

  • Infantile systemic hyalinosis is likely underdiagnosed and more common in Saudi Arabia and among Arabs than previously recognized.
  • Current therapeutic interventions are ineffective, emphasizing the need for novel treatment strategies.
  • Early and accurate diagnosis is crucial, despite the progressive nature of the disease.

More Related Videos

Assessment and Characterization of Hyaloid Vessels in Mice08:22

Assessment and Characterization of Hyaloid Vessels in Mice

Published on: May 15, 2019

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
Rocky Mountain Spotted Fever01:26

Rocky Mountain Spotted Fever

Rocky Mountain Spotted Fever (RMSF) is a severe tick-borne illness caused by Rickettsia rickettsii, a Gram-negative, coccobacillary bacterium. This pathogen is an obligate intracellular parasite, requiring a host cell for replication. Transmission occurs through the bite of an infected tick. In the United States, the most important vectors are Dermacentor variabilis (American dog tick) and Dermacentor andersoni (Rocky Mountain wood tick), though other tick species may also serve as vectors.
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...