Hyaline Fibromatosis Syndrome; Hfs

Description

Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. The severity is variable. Some individuals present in infancy and have additional visceral or systemic involvement, which can lead to early death. These patients may show intractable diarrhea and increased susceptibility to infection. Other patients have later onset of a milder disorder affecting only the face and digits. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis (summary by Denadai et al., 2012).

Clinical Features

Top most frequent phenotypes and symptoms related to Hyaline Fibromatosis Syndrome; Hfs

  • Pica
  • Failure to thrive
  • Flexion contracture
  • Neoplasm
  • Pain
  • Diarrhea
  • Respiratory distress
  • Recurrent infections
  • Osteoporosis
  • Coarse facial features
And another 14 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hyaline Fibromatosis Syndrome; Hfs Recommended genes panels

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

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FKBP10, COL3A1, FBN1, PLOD3, SLC39A13, PLOD2, ALG2, CHAT, CHRNE, DOK7, NEB, RAPSN, DNM2, LMNA, UBA1, TPM3, ACTA1, CNTN1, TPM2, MYH2 , (...)

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

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

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

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

By CGC Genetics in Portugal.

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

By PreventionGenetics PreventionGenetics in United States.

ANTXR2
Specificity
100 %
Genes
100 %
Hyaline fibromatosis syndrome.

By Centogene AG - the Rare Disease Company in Germany.

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

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
ANTXR2.

By Fulgent Genetics Fulgent Genetics in United States.

ANTXR2
Specificity
100 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Juvenile hyaline fibromatosis.

By Bioarray in Spain.

ANTXR2
Specificity
100 %
Genes
100 %
JUVENILE HYALINE FIBROMATOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

ANTXR2
Specificity
100 %
Genes
100 %
Juvenile Hyaline Fibromatosis, Sequencing ANTXR2 Gene.

By Reference Laboratory Genetics in Spain.

ANTXR2
Specificity
100 %
Genes
100 %
Hyaline Fibromatosis Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ANTXR2
Specificity
100 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %

Alternate names

Hyaline Fibromatosis Syndrome; Hfs Is also known as hyalinosis, systemic.



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