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Disease Profile

Hyaline fibromatosis syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

E78.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Juvenile hyaline fibromatosis (former subtype); Puretic syndrome; Infantile systemic hyalinosis (former subtype);

Categories

Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases;

Summary

Hyaline fibromatosis syndrome (HFS) is a condition characterized by deposits of a clear substance (hyaline) in the skin and in various other body tissues. It typically becomes apparent at birth or in infancy, causing severe pain with movement; progressive joint contractures which limit movement; thickened skin; and hyperpigmented patches over prominences of the joints. Other features may include digestive problems; gum enlargement; skin bumps; pearly papules on the face and neck; and masses near the anus (perianal masses). Complications can be life threatening. Many children with the severe form (previously called infantile systemic hyalinosis) die in early childhood, while some with a milder form (previously called juvenile hyaline fibromatosis) survive into adulthood.[1] HFS is caused by mutations in the ANTXR2 gene and is inherited in an autosomal recessive manner.[2] Treatment is supportive and aims to alleviate pain and other signs and symptoms of the condition.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal diaphysis morphology
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs

[ more ]

0000940
Abnormal hair morphology
Abnormality of the hair
Hair abnormality

[ more ]

0001595
Abnormal skull morphology
Abnormality of the skull
0000929
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth

[ more ]

0006482
Abnormality of the adrenal glands
Adrenal abnormalities
0000834
Aplasia/Hypoplasia of the thymus
Absent/small thymus
Absent/underdeveloped thymus

[ more ]

0010515
Brachydactyly
Short fingers or toes
0001156
Camptodactyly of finger
Permanent flexion of the finger
0100490
Chronic diarrhea
0002028
Coarse facial features
Coarse facial appearance
0000280
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Gingival overgrowth
Gum enlargement
0000212
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Immunodeficiency
Decreased immune function
0002721
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Micromelia
Smaller or shorter than typical limbs
0002983
Muscular hypotonia
Low or weak muscle tone
0001252
Osteomalacia
Softening of the bones
0002749
Osteopenia
0000938
Osteoporosis
0000939
Papule
0200034
Polycystic ovaries
0000147
Recurrent bacterial infections
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections

[ more ]

0002718
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Short neck
Decreased length of neck
0000470
Short palm
0004279
Skin ulcer
Open skin sore
0200042
Steatorrhea
Fat in feces
0002570
Subcutaneous nodule
Growth of abnormal tissue under the skin
Firm lump under the skin

[ more ]

0001482
Telangiectasia of the skin
0100585
Thickened skin
Thick skin
0001072
Urticaria
Hives
0001025
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin

[ more ]

0008065
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
5%-29% of people have these symptoms
Abnormality of the gastrointestinal tract
0011024
Gingival fibromatosis
0000169
Osteolysis
Breakdown of bone
0002797
Progressive flexion contractures
0005876
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Diarrhea
Watery stool
0002014
Progressive
Worsens with time
0003676
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

0002719
Variable expressivity
0003828

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

It has been suggested that physical therapy may help to treat joint contractures in juvenile hyaline fibromatosis; this therapy should be done with an awareness of the pain tolerance of each affected individual. Splinting may help reduce pain associated with contractures by stabilizing the joint.[3]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
    GeneReviews
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    Juvenile hyaline fibromatosis
    Infantile systemic hyalinosis
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyaline fibromatosis syndrome. Click on the link to view a sample search on this topic.

References

  1. Joseph TC Shieh, H Eugene Hoyme, and Laura T Arbour. Hyalinosis, Inherited Systemic. GeneReviews. April 11, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1525/.
  2. Cassandra L. Kniffin. HYALINE FIBROMATOSIS SYNDROME; HFS. OMIM. January 14, 2013; https://www.omim.org/entry/228600.
  3. Shieh JTC, Hoyme HE, Arbour LT. Inherited Systemic Hyalinosis. GeneReviews. February 2008; https://www.ncbi.nlm.nih.gov/books/NBK1525/. Accessed 2/13/2012.
  4. Bernárdez C, Martinez Barba E, Kutzner H, Requena L. A mild case of hyaline fibromatosis syndrome, presenting in an adult. J Eur Acad Dermatol Venereol. March 23, 2015; [Epub ahead of print]:
  5. Van Raak SM, Meuffels DE, Van Leenders GJ, Oei EH. Hyaline fibromatosis of Hoffa's fat pad in a patient with a mild type of hyaline fibromatosis syndrome. Skeletal Radiol. April, 2014; 43(4):531-534.

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