hyaline fibromatosis syndrome

Hyaline Fibromatosis Syndrome (HFS) Description

Hyaline fibromatosis syndrome, also known as infantile systemic hyalinosis (ISH), juvenile hyaline fibromatosis (JHF), or Murray syndrome, is a rare genetic disorder characterized by the abnormal growth of hyalinized fibrous tissue in various parts of the body.

Key Features:

• Abnormal Tissue Growth: HFS is marked by the deposition of amorphous, hyaline material in skin and visceral organs.
• Cutaneous Nodules: The condition often presents with multiple cutaneous nodules or pearly papules on the scalp, ears, neck, face, hands, and feet.
• Systemic Involvement: HFS can also affect internal organs, joints, bones, and other tissues, leading to a range of systemic symptoms.

Variants:

Two variants of HFS have been identified:

1. Infantile Systemic Hyalinosis (ISH): This variant presents in infancy with severe pain, progressive joint contractures, and motor disability.
2. Juvenile Hyaline Fibromatosis (JHF): This variant typically affects children and adolescents, presenting with skin nodules and other symptoms.

Causes:

HFS is caused by genetic mutations, which can be inherited or occur randomly during cell division. These mutations affect the gene for anthrax toxin receptor-2 (ANTXR2), leading to the abnormal tissue growth characteristic of the condition.

References:

• [1] Online Mendelian Inheritance in Man 228600
• [3] D Casas-Alba, "Hyaline fibromatosis syndrome", 2018
• [11] Description from OMIM
• [13] From OMIM

Hyaline fibromatosis syndrome is a rare genetic disorder characterized by abnormal growth of hyalinized fibrous tissue in various parts of the body, including the skin, joints, bones, and internal organs. The severity of the signs and symptoms can vary widely among affected individuals.

Common Signs and Symptoms:

• Abnormal growth of hyalinized fibrous tissue leading to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet [2]
• Severe diarrhea, failure to gain weight and grow at the expected rate, and general wasting and weight loss (cachexia) [3]
• Gingival hypertrophy
• Progressive joint contractures resulting in severe limitation of mobility, often affecting the knees, elbows, fingers, and other joints [6][8]
• Osteopenia and osteoporosis
• Intractable diarrhea and increased susceptibility to infection
• Slow-growing soft masses, pearly white or skin-colored dermal papules or subcutaneous nodules mostly located on the face, scalp, and back [9]

Other Possible Signs and Symptoms:

• Thickened skin
• Hyperpigmented macules/patches over bony prominences of the joints
• Severe pain with movement
• Progressive motor disability

It's essential to note that the severity and progression of symptoms can vary significantly among individuals with hyaline fibromatosis syndrome. Some may experience mild symptoms, while others may have more severe manifestations of the disease.

References: [1] Not applicable (this information is not present in the search results) [2] Context result 2 [3] Context result 3 [6] Context result 6 [8] Context result 8 [9] Context result 9

Diagnostic Tests for Hyaline Fibromatosis Syndrome

Hyaline fibromatosis syndrome (HFS) can be challenging to diagnose, but various tests and examinations can help confirm the condition. Here are some diagnostic tests that may be used:

• Skin Biopsy: A skin biopsy may reveal hyaline material accumulation in the dermis or nondiagnostic findings [1][2]. This test involves taking a small sample of skin tissue for examination under a microscope.
• Intestinal Biopsy: An intestinal biopsy may demonstrate villous atrophy and other changes in the intestinal lining, which can be indicative of HFS [2].
• Genetic Testing: Genetic testing can identify bi-allelic variants in the ANTXR2 gene, which are associated with extracellular hyaline deposits and HFS [7]. This test involves analyzing a DNA sample to detect specific genetic mutations.
• Comprehensive Differential Diagnostic Panel: A comprehensive differential diagnostic panel for HFS may include 8 curated genes according to clinical signs [8]. This test involves analyzing a DNA sample to identify potential genetic causes of the condition.

It's essential to note that these tests are typically performed under the guidance of a healthcare professional, and a diagnosis of HFS should only be made by a qualified medical expert.

Symptomatic treatment is recommended for Hyaline Fibromatosis Syndrome (HFS).

• Nonsteroidal anti-inflammatory drugs (NSAIDs) and opiates help with pain control [5, 7, 8]. These medications can provide relief from the severe pain associated with HFS.
• Systemic corticosteroids may be used to manage joint symptoms [6].
• Penicillamine, methotrexate, and steroids (both systemic and intralesional) have been tried with limited success [4].

It's essential to note that there is no specific treatment for HFS, and the above-mentioned treatments are primarily aimed at managing symptoms. The prognosis for individuals with HFS can be poor due to the progressive nature of the disease.

References:

[4] by L Xia · 2021 · Cited by 7 — Various therapeutic strategies have been used, including penicillamine, methotrexate, and steroids (both systemic and intralesional), unfortunately with limited ... [5] by I Cherkaoui Jaouad · 2014 · Cited by 16 — A symptomatic treatment is recommended for HFS. Nonsteroidal anti-inflammatory drugs and opiates help to control pain. When passive movement of ... [6] Treatment, which is unsatisfactory, includes excision of skin lesions, repeated gingivectomy, and systemic corticosteroids for joint symptoms. At least one ... [7] by RM Oswal · 2022 · Cited by 4 — Symptomatic treatment is recommended for HFS. Non-steroidal anti-inflammatory drugs and opiates help with pain control. Physiotherapy should be ... [8] by B Härter · 2020 · Cited by 16 — Thus treatment is symptomatic. Important is an adequate analgetic therapy with nonsteroidal anti-inflammatory drugs, gabapentin, and opiates. As ...

Differential Diagnosis of Hyaline Fibromatosis Syndrome

Hyaline fibromatosis syndrome (HFS) is a rare genetic disorder characterized by the abnormal deposition of hyaline extracellular matrix materials in various tissues. When diagnosing HFS, it's essential to consider other conditions that may exhibit similar symptoms and characteristics.

Conditions with Similar Features:

• Winchester Syndrome: A rare autosomal recessive condition that shares some features with HFS, including skin and mucosal involvement.
• Hajdu-Cheney Syndrome: Another rare genetic disorder that can mimic the appearance of HFS, particularly in terms of joint and bone disease.
• Gingival Fibromatosis: A condition characterized by excessive growth of gum tissue, which may be mistaken for HFS due to similar oral manifestations.
• Amyloidosis: A group of diseases caused by abnormal deposition of amyloid proteins, which can lead to skin and mucosal involvement, similar to HFS.
• Lipoid Proteinosis: A rare condition characterized by the accumulation of lipids in various tissues, including skin and mucosa, which may be confused with HFS.
• Waldenström's Macroglobulinemia: A type of cancer that can cause abnormal deposition of proteins in various tissues, including skin and mucosa.

Key Diagnostic Features:

To differentiate HFS from these conditions, clinicians should look for the following key features:

• Genetic Testing: Mutations in the ANTXR2 gene are a hallmark of HFS.
• Histological Evidence: Deposition of amorphous hyaline material in skin or mucosa can support a diagnosis of HFS.
• Clinical Presentation: Severe pain with movement, progressive joint contractures, and severe motor disability are characteristic features of HFS.

References:

[1] The differential diagnosis should first include Winchester syndrome, a rare autosomal recessive condition (Source: #2). [3] The differential diagnosis of Winchester syndrome includes Hajdu-Cheney syndrome and the diseases described below (Source: #3). [5] Conditions that can mimic the appearance of juvenile hyaline fibromatosis include gingival fibromatosis, lipoid proteinosis, and Waldenström's macroglobulinemia (Source: #5). [7] Hyaline fibromatosis syndrome is a rare clinical condition caused by mutations in ANTXR2 gene (Source: #7). [11] A differential diagnosis of deposition disorder, hyalinosis, and stiff skin syndrome was proposed (Source: #11).