Hyaline fibromatosis syndrome

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Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

E78.8

Inheritance

Hyaline fibromatosis syndrome is inherited in an autosomal recessive manner.^[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

25% (1 in 4) chance to be affected
50% (1 in 2) chance to be an unaffected carrier like each parent
25% chance to be unaffected and not be a carrier.

Once an at-risk sibling of an affected person is known to be unaffected, the chance for that sibling to be a carrier is about 67% (2 in 3).

If the disease-causing mutations have been identified in an affected family member, prenatal testing for at-risk pregnancies may be available. The use of prenatal ultrasound for detecting HFS is unclear, but in a pregnancy at risk, detecting decreased fetal activity and contractures could suggest recurrence. Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease-causing mutations have been identified.^[1]

People with a family history of HFS are encouraged to speak with a genetic counselor or other genetics professional.

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

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

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

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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]

Related diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Juvenile hyaline fibromatosis, Winchester syndrome, lipoid proteinosis (Urbach-Wiethe disease) and mucopolysaccharidosis type II (Hunter's syndrome) should be considered in the differential diagnosis (see these terms). Visit the Orphanet disease page for more information.

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

Genetics Home Reference contains information on Hyaline fibromatosis syndrome. This website is maintained by the National Library of Medicine.
Juvenile hyaline fibromatosis
Infantile systemic hyalinosis

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

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/.
Cassandra L. Kniffin. HYALINE FIBROMATOSIS SYNDROME; HFS. OMIM. January 14, 2013; https://www.omim.org/entry/228600.
Shieh JTC, Hoyme HE, Arbour LT. Inherited Systemic Hyalinosis. GeneReviews. February 2008; https://www.ncbi.nlm.nih.gov/books/NBK1525/. Accessed 2/13/2012.
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]:
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.

Rare Oncology News

Rare Oncology News

Rare Oncology News

Neonatal

E78.8

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Diagnosis

Testing Resources

Treatment

Related diseases

Learn more

Where to Start

In-Depth Information

References

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.

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