17

What is the history of Juvenile Hyaline Fibromatosis?

When was Juvenile Hyaline Fibromatosis discovered? What is the story of this discovery? Was it coincidence or not?

History of Juvenile Hyaline Fibromatosis

Juvenile Hyaline Fibromatosis: A Rare Genetic Disorder


Juvenile Hyaline Fibromatosis (JHF) is an extremely rare genetic disorder that primarily affects the connective tissues of the body. It is characterized by the formation of hyaline fibromas, which are benign tumors that can develop in various parts of the body, including the skin, joints, and internal organs. JHF is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected.



Discovery and Early Cases


The first documented case of JHF was reported in 1962 by Murray and Jacobson, who described a Finnish family with multiple affected individuals. However, it wasn't until 1988 that the condition was officially recognized as a distinct disorder by Gorlin et al. Since then, several cases have been reported worldwide, but due to its rarity, the exact prevalence of JHF remains unknown.



Clinical Features


JHF primarily affects infants and young children, with symptoms typically appearing within the first year of life. The most common clinical features include the development of multiple skin nodules, joint contractures, and gingival hypertrophy (enlarged gums). These skin nodules, known as hyaline fibromas, are usually painless and vary in size. They can occur on the scalp, face, trunk, and extremities, and may lead to disfigurement and functional impairment.



Systemic Involvement


In addition to skin and joint involvement, JHF can also affect various internal organs. Respiratory complications, such as recurrent respiratory infections and obstructive sleep apnea, are common in affected individuals. The gastrointestinal system may be affected, leading to feeding difficulties and malabsorption. Other reported systemic manifestations include cardiac abnormalities, skeletal deformities, and neurological symptoms.



Genetic Basis


JHF is caused by mutations in the ANTXR2 gene, also known as CMG2 (Capillary Morphogenesis Gene 2). This gene provides instructions for producing a protein involved in the formation of blood vessels and the regulation of cell adhesion. The exact mechanism by which these mutations lead to the development of hyaline fibromas is not fully understood.



Diagnosis and Management


The diagnosis of JHF is primarily based on clinical features, such as the presence of characteristic skin nodules and joint contractures. Genetic testing can confirm the presence of ANTXR2 gene mutations. However, due to the rarity of the condition, diagnosis may be challenging, and a multidisciplinary approach involving dermatologists, geneticists, and other specialists is often required.



Currently, there is no cure for JHF, and treatment focuses on managing the symptoms and improving quality of life. Surgical removal of hyaline fibromas may be considered in cases where they cause functional impairment or cosmetic concerns. Physical therapy and occupational therapy can help improve joint mobility and prevent contractures. Regular monitoring and management of associated complications, such as respiratory and gastrointestinal issues, are essential.



Prognosis


The prognosis for individuals with JHF varies depending on the severity and extent of organ involvement. In some cases, the condition may be relatively mild, with a good long-term outlook. However, severe cases can lead to significant disability and reduced life expectancy. Early diagnosis and appropriate management can greatly improve the prognosis and quality of life for affected individuals.



Conclusion


Juvenile Hyaline Fibromatosis is a rare genetic disorder characterized by the development of hyaline fibromas in the skin, joints, and internal organs. It primarily affects infants and young children and is inherited in an autosomal recessive manner. While there is no cure for JHF, early diagnosis, multidisciplinary management, and supportive care can greatly improve the prognosis and quality of life for affected individuals.


Diseasemaps
1 answer

History of Juvenile Hyaline Fibromatosis

Juvenile Hyaline Fibromatosis life expectancy

What is the life expectancy of someone with Juvenile Hyaline Fibromatosis?

2 answers
Celebrities with Juvenile Hyaline Fibromatosis

Celebrities with Juvenile Hyaline Fibromatosis

Is Juvenile Hyaline Fibromatosis hereditary?

Is Juvenile Hyaline Fibromatosis hereditary?

2 answers
Is Juvenile Hyaline Fibromatosis contagious?

Is Juvenile Hyaline Fibromatosis contagious?

2 answers
Natural treatment of Juvenile Hyaline Fibromatosis

Is there any natural treatment for Juvenile Hyaline Fibromatosis?

ICD9 and ICD10 codes of Juvenile Hyaline Fibromatosis

ICD10 code of Juvenile Hyaline Fibromatosis and ICD9 code

2 answers
Living with Juvenile Hyaline Fibromatosis

Living with Juvenile Hyaline Fibromatosis. How to live with Juvenile Hyalin...

1 answer
Juvenile Hyaline Fibromatosis diet

Juvenile Hyaline Fibromatosis diet. Is there a diet which improves the qual...

1 answer

World map of Juvenile Hyaline Fibromatosis

Find people with Juvenile Hyaline Fibromatosis through the map. Connect with them and share experiences. Join the Juvenile Hyaline Fibromatosis community.

Stories of Juvenile Hyaline Fibromatosis

JUVENILE HYALINE FIBROMATOSIS STORIES

Tell your story and help others

Tell my story

Juvenile Hyaline Fibromatosis forum

JUVENILE HYALINE FIBROMATOSIS FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map