Fibromatosis: Definition, Terminology, Subtypes, Symptoms and Treatments

It refers to a group of soft tissue tumors that have certain characteristics in common.

Characteristics that include the absence of cytological and malignant clinical properties, a histology compatible with the proliferation of well-differentiated fibroblasts , an infiltrating growth pattern and an aggressive clinical behavior with frequent local reappearance.

The World Health Organization classifies it as an intermediate soft tissue tumor related to the sarcoma family.

Terminology

Other names include ” musculoaponeurotic fibromatosis “, which refers to the tendency of these tumors to be adjacent and to infiltrate deep skeletal muscle, aggressive fibromatosis and “desmoid tumor”.

A clear difference must be made between intra-abdominal and extra-abdominal locations. Fibromatosis is an entity different from neurofibromatosis.

Subtypes

The subtypes of fibromatosis include:

  • Fibromatosis hialina juvenil/ Fibromatosis hyalinica multiplex.
  • Fibromatosis coli.
  • Fibromatosis digital infantil.
  • Myofibromatosis, infantile.
  • Lipofibromatosis.
  • Fibromatosis plantar.
  • Penile fibromatosis (Peyronie’s disease).
  • Palmar fibromatosis (Dupuytren’s contracture).

Fibromatosis hialina juvenil/ Fibromatosis hyalinica multiplex

Juvenile hyaline fibromatosis (also known as “juvenile multiple hyalinic fibromatosis”, “Murray-Puretic-Drescher syndrome”) is a very rare autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene) .

Occurs from early childhood to adulthood and presents as cutaneous or dermal papules or nodules, slow-growing, pearly-white or skin-colored in the face, scalp and back, which may be confused clinically with the neurofibromatosis.

Fibromatosis colli

Fibromatosis colli (also known as childhood sternomastoid tumor) is a benign proliferation of fibrous tissue that infiltrates the lower third of the sternocleidomastoid and is the most common cause of neonatal torticollis.

Enlargement of the non-neoplastic sternocleidomastoid muscle in childhood. The mass, also known as the sternocleidomastoid hematoma, is firm and hard on palpation, but is not tender or inflamed.

The mass is easily diagnosed by ultrasound, where it is found within the sternocleidomastoid and enlarges the muscle. The lesion is self-limiting and benign, usually resolves with time and physical therapy.

It usually does not require resection and responds well to physiotherapy. Rarely, it needs to be surgically removed. The surgery is performed in patients in whom the torticollis persists for 1 year.

Fibromatosis digital infantil

Childhood digital fibromatosis, also known as childhood digital myofibroblastoma, Reye’s tumor, inclusion body fibroma, or inclusion body fibromatosis, usually appears as a small, asymptomatic, nodular dermal fibrous proliferation on the extensor or lateral surface of a toe or of the foot.

It occurs almost exclusively on the dorsal and lateral sides of the fingers or toes. Reyefirst described childhood digital fibromatosis in 1965 as a recurrent digital fibrous tumor.

Childhood digital fibromatosis is a tumor derived from myofibroblasts that may be present at birth or develop within the first month of life.

Infant digital fibromatosis may appear as one or more nodules that are firm, reddish-pink and typically 1-2 cm in size.

Lesions occur on the dorsal or lateral sides of the distal phalanges of the fingers and toes, with characteristic preservation of the first toe and toe.

The lesions are typically asymptomatic; however, if there is a large and limited joint mobility and a functional finger deformity.

Individual nodules usually grow slowly during the first month and then progress to a rapid growth phase for the next 10 to 14 months, followed by spontaneous regression.

Although local recurrence may occur after excision, the nodules show no bone invasion or metastasis. It is noteworthy that rare cases have been reported in older children and adults.

Childhood myofibromatosis

Infantile myofibromatosis (also known as “generalized congenital fibromatosis” and “multicentric congenital fibromatosis”) is the most common fibrous tumor in childhood.

Eighty percent of patients present solitary lesions, half of them in the head and neck and sixty percent are present at birth or shortly after.

Less frequently, childhood myofibromatosis presents as multiple lesions of the skin, muscles, and bones, and about 1/3 of these cases also have lesions on the visceral organs.

All these cases have an excellent prognosis, since their tumors sometimes regress spontaneously, except in cases where there is visceral involvement and the prognosis is bad.

It has been suggested that childhood myofibromatosis and the classic form of mesoblastic nephroma are the same disease due to their very similar histology.

However, studies on the distribution of cell-type markers (ie, cyclin D1 and beta-catenin) indicate that the two neoplasms probably have different cellular origins.

Lipofibromatosis

Also known as variant of infantile fibromatosis and variant of juvenile fibromatosis is a benign tumor of rare fatty tissue typically seen in children. Some of these tumors have a congenital presentation

The cause and risk factors for lipofibromatosis have not been established.

Some studies indicate that it may be due to genetic factors. The tumors are slow growing and are present without pain. The most frequent sites are the hands and feet, in more than 50% of cases.

The treatment of choice is a complete surgical excision by simple excision. The prognosis of lipofibromatosis is excellent with adequate treatment, although there is a high risk of tumor recurrence.

Fibromatosis plantar

Plantar fascial fibromatosis, also known as Ledderhose disease, Morbus Ledderhose and plantar fibromatosis, is an uncommon non-malignant thickening of the deep connective tissue of the feet, or fascia.

The disease is named after Dr. Georg Ledderhose , a German surgeon who described the condition for the first time in 1894.

A similar illness is Dupuytren’s disease, which affects the hand and causes the hand or fingers to bend.

As in most forms of fibromatosis, it is usually benign and its appearance varies with each patient. The nodules are typically slow growing and are found most frequently in the central and medial portions of the plantar fascia.

Occasionally, the nodules may remain inactive for months or years only to begin rapid and unexpected growth.

Options for intervention include radiation therapy, cryosurgery, clostridium histolyticum collagenase treatment, or surgical removal only if discomfort makes walking difficult.

The lump is usually painless and the only pain experienced is when the nodule rubs the shoe or the floor.

The typical appearance of plantar fibromatosis in MRI is a poorly defined infiltrative mass in the aponeurosis next to the plantar muscles.

The histological and ultrastructural characteristics of Ledderhose and Dupuytren’s disease are the same, which supports the hypothesis that they have a common cause and pathogenesis.

As with Dupuytren’s disease, the causes of Ledderhose’s disease are not yet known.

It has been observed that it is a hereditary disease of variable occurrence within families, that is, the genes necessary for it can remain inactive for a generation or more and then appear in an individual, or be present in multiple individuals of the same generation with variations.

There are certain risk factors identified. The disease is most commonly associated with:

  • A family history of the disease.
  • Higher incidence in men.
  • Palmar fibromatosis 10-65% of the time.
  • Peyronie’s disease
  • Patients with epilepsy .
  • Patients with diabetes mellitus.

There is also a suspicious link, although not proven, between incidence and alcoholism, smoking, liver diseases, thyroid problems and stressful work involving the feet.

Although the origin of the disease is unknown, there is also some evidence that it could be genetic. It is recommended to avoid direct pressure to the nodules, soft inner soles on the footwear and padding may be useful.

Radiation therapy has been shown to reduce the size of the nodules and reduce the pain associated with them. It has approximately 80% effectiveness, with minimal side effects.

In some cases, it has also been reported that shock waves minimize pain and allow walking again.

Currently in the approval process of the Food and Drug Administration is the collagenase injection.

Superoxide dismutase injections have been shown to be unsuccessful in curing the disease, while radiotherapy has been used successfully in Ledderhose nodules.

Penile fibromatosis ( Peyronie’s disease )

Although the popular conception of Peyronie’s disease is that it always involves the curvature of the penis, scar tissue sometimes causes indentations instead of curvature.

The disease can cause pain; hardened, large, cord-like lesions (scar tissue known as “plaques”); or abnormal curvature of the penis when it is erect due to chronic inflammation of the tunica albuginea.

A variety of treatments have been used, but none has been especially effective. It is estimated that it affects approximately 10% of men. The condition becomes more common with age.

The disorder is limited to the penis, although a significant number of men with Peyronie have concurrent connective tissue disorders in the hand and, to a lesser degree, in the feet.

An ultrasound can provide conclusive evidence of Peyronie’s disease, ruling out congenital curvature or other disorders.

To date, a long-term objective natural history has not been recorded through continuous assessment of patients.

Many oral treatments have been studied, but so far the results have been mixed. Some consider that the use of non-surgical approaches is “controversial”.

Xiaflex is a medicine originally approved by the administration of food and medicines to treat the contracture of Dupuytren, now it is an injectable medicine for the treatment of Peyronie’s disease.

It is reported that the medication works by breaking down the excess collagen in the penis that causes Peyronie’s disease.

Supplementation with vitamin E has been studied for decades, and some success has been reported in previous trials, but those successes have not been reliably repeated in larger and more recent studies.

A combination of vitamin E and colchicine has shown promise in delaying the progression of the disease.

Some newer agents aimed at the basic mechanisms of inflammation have been studied in larger clinical trials. These include para-aminobenzoate potassium (Potaba), pentoxifylline (which acts through the inhibition of TGFβ1) and Coenzyme Q10.

The efficacy of Interferon-α-2b in the early stages of the disease has been reported in recent publications, but it was found to be less effective in cases where plaque calcification had occurred in common with many treatments.

Surgery, such as the “Nesbit operation” (named after Reed M. Nesbit [1898-1979], an American urologist), is considered a last resort and should only be performed by highly qualified urological surgeons with technical knowledge. specialized corrective surgery.

A penile prosthesis may be appropriate in advanced cases.

There is moderate evidence that penile traction therapy is a minimally invasive treatment that is well tolerated, but there is uncertainty about the optimal duration of the stretching per day and per course of treatment, and the course of treatment is difficult.

Palmar fibromatosis (Dupuytren’s contracture)

Dupuytren’s contracture is a condition in which one or more fingers bend permanently in a flexed position.

It usually begins as small hard nodules just below the skin of the palm. Then it gets worse over time until the fingers can no longer be straightened. Although it is usually not painful, there may be some pain or itching.

The ring finger followed by the small and middle fingers are the most commonly affected. It can interfere with food preparation, writing and other activities.

The cause is unknown. Risk factors include family history, alcoholism, smoking, thyroid problems, liver disease, diabetes, previous hand trauma and epilepsy .

The underlying mechanism involves the formation of abnormal connective tissue within the palmar fascia. The diagnosis is usually based on the symptoms.

The initial treatment is usually with steroid injections in the affected area and physiotherapy. Among those that get worse, you can try clostridial collagenase injections or surgery.

Although radiation therapy is used to treat this condition, the evidence for this use is poor. The condition can recur despite the treatment. It mainly affects white people and is rare among Asians and Africans.

In the United States, approximately 5% of people are affected at some point, while in Norway, around 30% of men over 60 have the condition.

In the United Kingdom, approximately 20% of people over 65 suffer from some type of disease. It is named after Guillaume Dupuytren, who first described the underlying mechanism in 1833.

Typically, Dupuytren’s contracture first presents as a thickening or nodule in the palm, which can initially be with or without pain.

Later in the disease process, there is painless further loss of range of motion of the affected fingers.

The first sign of a contracture is a triangular “puckering” of the skin of the palm when it passes over the flexor tendon just before the flexor crease of the finger, in the metacarpophalangeal joint.

Generally, the cords or contractures are painless, but, rarely, tenosynovitis can occur and produce pain. The most common finger that will be affected is the ring finger; The thumb and index finger are affected much less frequently.

The disease begins in the palm and moves to the fingers, with the metacarpophalangeal joints affected before the proximal interphalangeal joints.

Treatment

The treatment is mainly surgical, radiotherapy or chemotherapy are generally an indication of relapse.

Desmoid fibromatosis of the head and neck is a serious condition due to local aggression, specific anatomical patterns and the high relapse rate. For children, surgery is particularly difficult, given the potential for growth disorders.

Treatment includes immediate radical excision with a wide margin and / or radiation. Despite its infiltrative and aggressive local behavior, mortality is minimal or non-existent for peripheral tumors.

In intra-abdominal fibromatosis associated with familial adenomatous polyposis (FAP), surgery is avoided if possible due to the high rates of recurrence within the abdomen that lead to significant morbidity and mortality.

In contrast, for intraabdominal fibromatosis without evidence of familial adenomatous polyposis, extensive surgery may be necessary for local symptoms, but the risk of recurrence is low.