Case Study: Treating A Patient With Painful And Aggressive Periungual Fibromas
These authors discuss the use of partial amputation to treat a patient with a history of tuberous sclerosis who presents with a chief complaint of painful periungual fibromas on three digits.
Multiple periungual fibromas are a rare form of benign tumors composed of connective tissue. Patients can acquire periungual fibromas but they are most commonly a consequence of tuberous sclerosis complex. These benign tumors often put excessive pressure on the nail matrix, causing pain, discomfort and nail deformity.
Tuberous sclerosis complex is a rare autosomal dominant disease (mutation in TSC1 or TSC2 gene), which affects one in 6,000 births. It is estimated that 1 million people worldwide are known to have tuberous sclerosis and 50,000 of those people are in the United States.1 The disease effects many organs of the body, including the brain, kidneys, skin, lungs, heart and to a lesser extent other organs in the body by abnormal cellular differentiation and proliferation, as well as abnormal neuronal migration. This process ultimately causes the growth of many benign tumors in the body.2
Periungual fibromas or Koenen’s tumors often occur in the foot and hands in patients with tuberous sclerosis. Periungual fibromas are considered a type of fibrokeratoma, which are composed of fibrous connective tissue originating from above the nail matrix. These tumors can be acquired or congenital with the latter being associated with tuberous sclerosis.3 They are small, flesh colored, firm, protruding nodules that grow around the lateral and posterior nail folds from under the nail plate.4,5
Although these tumors are rare, the highest percentage of occurrence is in the lower extremity. They can often cause bleeding and increased pressure on the nail matrix, causing pain, discomfort and nail deformity. While they are not life threatening, these tumors often need to be surgically removed to ensure the comfort of the patient.
Preferred treatment includes the surgical removal of the entire soft tumors, leaving the underlying bone intact. Aggressive growth may also lead to partial amputation of the digits although this has not been reported previously in the literature. In the case presented below, the removal of the tumors required excessive soft tissue removal and partial amputation of the digit due to the aggressive nature of the tumors.
What The Exam Revealed
A 59-year-old African-American female with a known history of tuberous sclerosis presents to the clinic with a chief complaint of painful periungual fibromas on her left third, fourth and fifth digits. They have been present for several years. However, with the fibromas’ constant growth, the patient had difficulty finding comfortable shoe gear to be able to ambulate comfortably. She previously had similar periungual fibromas on her right third, fourth and fifth digits. These fibromas were surgically removed 40 years earlier.
In regard to the physical examination, the patient had multiple, pink, firm, wart-like lesions with serosanguineous drainage on the distal aspect of the left third, fourth and fifth toes consistent with periungual fibromas. These lesions were painful on palpation. The vascular examination revealed palpable dorsalis pedis and posterior tibial pulses. Motor strength and neurologic sensation was within normal limits.