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Text
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Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1097/00001665-200309000-00022" target="_blank" rel="noreferrer">http://doi.org/10.1097/00001665-200309000-00022</a>
Dublin Core
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Title
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Infantile Systemic Haylinosis
Publisher
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The Journal Of Craniofacial Surgery
Date
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2003
Subject
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Child; Female; Humans; adolescent; Contracture/pathology; Consanguinity; Collagen Diseases/metabolism/pathology; Fibromatosis; Gingival/pathology/surgery; Hyalin/metabolism; Skin Diseases/metabolism/pathology/surgery
Creator
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Al-Najjadah I; Bang RL; Ghoneim IE; Kanjoor JR
Description
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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.
2003
Identifier
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<a href="http://doi.org/10.1097/00001665-200309000-00022" target="_blank" rel="noreferrer">10.1097/00001665-200309000-00022</a>
Rights
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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
The nature or genre of the resource
Journal Article
2003
Adolescent
Al-Najjadah I
Backlog
Bang RL
Child
Collagen Diseases/metabolism/pathology
Consanguinity
Contracture/pathology
Female
Fibromatosis
Ghoneim IE
Gingival/pathology/surgery
Humans
Hyalin/metabolism
Journal Article
Kanjoor JR
Skin Diseases/metabolism/pathology/surgery
The Journal Of Craniofacial Surgery