Juvenile Hyaline Fibromatosis

Description

Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Juvenile Hyaline Fibromatosis

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory distress
  • Diarrhea
  • Recurrent infections
  • Osteoporosis
  • Osteopenia

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Juvenile Hyaline Fibromatosis Is also known as puretic syndrome, murray-puretic-drescher syndrome, hyalinosis, systemic.

Researches and researchers

Doctors, researchs, and experts related to Juvenile Hyaline Fibromatosis extracted from public data.

Juvenile Hyaline Fibromatosis Experts map



Current Researchs and researchers

  • LAUSANNE — Pr Gisou VAN DER GOOT

    Investigator of research project

    • Institution/s:
      — Global Health Institute, EPFL - Ecole Polytechnique Fédérale de Lausanne
    • Research area/topic::

      Towards preventing nodule formation in hyaline fibromatosis patients



Mendelian

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Juvenile Hyaline Fibromatosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal Storage Disease Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
CMG2 (ANTXR2) - Hyalinosis, Infantile Systemic.

By Centre of Molecular Diseases (CMM) CHUV (Switzerland).

ANTXR2
Specificity
100 %
Genes
100 %
ANTXR2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ANTXR2
Specificity
100 %
Genes
100 %
Hyalinosis, Inherited Systemic (sequence analysis of ANTXR2 gene).

By CGC Genetics (Portugal).

ANTXR2
Specificity
100 %
Genes
100 %
Hyaline Fibromatosis Syndrome via ANTXR2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ANTXR2
Specificity
100 %
Genes
100 %
Hyaline fibromatosis syndrome.

By Centogene AG - the Rare Disease Company (Germany).

ANTXR2
Specificity
100 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

SGSH, SLC17A5, SLC25A15, SMPD1, BTD, SUOX, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, ACY1, SUMF1, L2HGDH, TPP1, CLN3, CLN5, CLN6, CLN8, DYM , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %

We have 8 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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