1
40
3
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
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
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Infantile Systemic Haylinosis
Publisher
An entity responsible for making the resource available
The Journal Of Craniofacial Surgery
Date
A point or period of time associated with an event in the lifecycle of the resource
2003
Subject
The topic of the resource
Child; Female; Humans; adolescent; Contracture/pathology; Consanguinity; Collagen Diseases/metabolism/pathology; Fibromatosis; Gingival/pathology/surgery; Hyalin/metabolism; Skin Diseases/metabolism/pathology/surgery
Creator
An entity primarily responsible for making the resource
Al-Najjadah I; Bang RL; Ghoneim IE; Kanjoor JR
Description
An account of the resource
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
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1097/00001665-200309000-00022" target="_blank" rel="noreferrer">10.1097/00001665-200309000-00022</a>
Rights
Information about rights held in and over the resource
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
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.3109/15513818609025925" target="_blank" rel="noreferrer">http://doi.org/10.3109/15513818609025925</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis
Publisher
An entity responsible for making the resource available
Pediatric Pathology / Affiliated With The International Paediatric Pathology Association
Date
A point or period of time associated with an event in the lifecycle of the resource
1986
Subject
The topic of the resource
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
Creator
An entity primarily responsible for making the resource
Landing BH; Nadorra R
Description
An account of the resource
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
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.3109/15513818609025925" target="_blank" rel="noreferrer">10.3109/15513818609025925</a>
Rights
Information about rights held in and over the resource
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
1986
Backlog
Chromosome Aberrations/genetics/pathology
Chromosome Disorders
Contracture/genetics/pathology
Female
Fibromatosis
Gastrointestinal Diseases/pathology
Genes
Gingival/genetics/pathology
Humans
Hyalin/metabolism
Infant
Intestinal Mucosa/pathology
Journal Article
Landing BH
Nadorra R
Pediatric Pathology / Affiliated With The International Paediatric Pathology Association
Recessive
Skin Diseases/pathology
Skin/pathology
Syndrome
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1159/000018058" target="_blank" rel="noreferrer">http://doi.org/10.1159/000018058</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Juvenile hyaline fibromatosis: clinical heterogeneity in three patients
Publisher
An entity responsible for making the resource available
Dermatology (basel, Switzerland)
Date
A point or period of time associated with an event in the lifecycle of the resource
1999
Subject
The topic of the resource
Child; Female; Humans; Male; Family Health; Preschool; infant; Fibromatosis; Hyalin/metabolism; Joint Diseases/pathology; Fibroma/genetics/metabolism/pathology; Gingival/pathology; Skin Neoplasms/genetics/metabolism/pathology; Skin/metabolism/pathology/ultrastructure
Creator
An entity primarily responsible for making the resource
Mancini GM; Stojanov L; Willemsen R; Kleijer WJ; Huijmans JG; van Diggelen OP; de Klerk JB; Vuzevski VD; Oranje AP
Description
An account of the resource
BACKGROUND: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. OBSERVATIONS: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. CONCLUSION: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question.
1999
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1159/000018058" target="_blank" rel="noreferrer">10.1159/000018058</a>
Rights
Information about rights held in and over the resource
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
1999
Backlog
Child
de Klerk JB
Dermatology (basel, Switzerland)
Family Health
Female
Fibroma/genetics/metabolism/pathology
Fibromatosis
Gingival/pathology
Huijmans JG
Humans
Hyalin/metabolism
Infant
Joint Diseases/pathology
Journal Article
Kleijer WJ
Male
Mancini GM
Oranje AP
Preschool
Skin Neoplasms/genetics/metabolism/pathology
Skin/metabolism/pathology/ultrastructure
Stojanov L
van Diggelen OP
Vuzevski VD
Willemsen R