Excerpt from Plantar Fibromatosis

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Background

The fibromatoses represents a wide spectrum of locally infiltrative clinicopathologic processes characterized by the proliferation of generally mature fibroblasts associated with mature collagen. Some of these entities are present at birth or develop in early childhood (eg, juvenile fibromatosis [JF]). Others may appear in adulthood.

The term plantar fibromatosis (PF) is used for different conditions, as follows: (1) a relatively common plantar equivalent of Dupuytren palmar contracture named Ledderhose disease (LD); (2) a more uncommon plantar superficial fibromatosis that, unlike deep fibromatosis (eg, abdominal, extra-abdominal, and visceral fibromatosis) generally has a less aggressive and recurrent tendency; and (3) an extremely rare, benign cerebriform mesodermal hamartomatous proliferation that, in a plantar location, appears to be a clinicopathologic marker of Proteus syndrome (PS).

Juvenile aponeurotic fibroma (JAF) and aggressive infantile fibromatosis (AIF) can also be considered to be in the PF group when lesions are present on the sole of the foot.

Pathophysiology

PF represents not a single entity, but rather, a heterogeneous group of conditions with the common characteristics of plantar location and histologic features of mature collagen and fibroblasts with no malignant cytologic features.

In LD (described in 1897), as in Dupuytren contracture (DC) (first reported in 1831), repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have been reported in association with the development of the lesions in middle-aged or elderly people. Often, patients with LD also have other fibrosing conditions such as DC, knuckle pads, or induratio penis plastica (ie, Peyronie disease, first reported in 1743 by François de la Peyronie, physician of Louis XV of France). Heredity is also a clear factor in many patients.

Superficial fibromatosis (SF) in a plantar location includes a variety of soft-tissue tumoral proliferations of fibroblasts. However, it has been shown that some forms are not due to fibroblast overgrowth but to myofibroblast proliferation; SF is more common in children and young adults than in older people.

Cerebriform mesodermic hamartomas on the soles represent a kind of mesodermal nevus and are usually associated with PS. This syndrome was named after the Greek god Proteus, the "Old Man of the Sea" and son of Poseidon who was able to change his shape to protect himself. PS is a complex malformative or asymmetric hypertrophic syndrome associated with multiple cutaneous and musculoskeletal manifestations such as epidermal verrucous nevus, vascular hamartomas, and exophytic cerebriform fibrolipomata and scoliosis, kyphosis, and exostosis, respectively. Hamartomatous cerebriform PF may develop on the soles before other manifestations of PS appear, and it is considered a marker for PS.

Fibromas and desmoid tumors (eg, intestinal polyps, osteomas, soft-tissue tumors, epidermal cysts) are common in Gardner syndrome, which was described in 1950. These tumors often arise over previous surgical scars. By means of direct DNA sequencing, recent studies show that somatic beta-catenin or adenomatous polyposis coli (APC) gene mutations are present in virtually 100% of cases of Gardner syndrome–associated fibromatosis (GAF), as well as most cases of deep fibromatosis (DF). On the other hand, no somatic mutations were identified in beta-catenin or APC genes in SF. Therefore, the divergent behaviors of SF in relation to DF and GAF, despite their similar clinical and histologic morphologic features, are based on genetic differences.

Frequency

United States

LD is relatively common, and plantar contracture develops in approximately 25% of middle-aged or elderly individuals (1 of every 4 with DC). Superficial plantar fibromatosis (SPF) is uncommon, and the hamartomatous form associated with PS is rare. The exact incidences of SPF and the hamartomatous form associated with PS are unknown.

Mortality/Morbidity

• The different varieties of PF may be asymptomatic. However, the feeling of a mass in the foot, difficulty fitting in shoes, and pain with weight bearing often affect patients' ability to stand or walk.
• Only AIF has an invasive course, as does fibrosarcoma; however, it does not metastasize.
• Recurrent forms are not uncommon, although plantar fasciectomy has a relatively reduced rate of recurrence in LD.

Race

Whites are affected more often than other groups.

Sex

• LD affects men approximately 10 times more often than it affects women.
• JAF is more common in boys than in girls.
• No sex predilection is evident for the other forms of PF.

Age

• LD is seen in middle-aged and elderly people.
• SPF and JAF are most common in children and youths than in adults.
• The exceptional AIF begins in an infant's first year of life. The rare hamartomatous variety also develops in infants.

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