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.
Radiologic examination revealed an increase in soft tissue density and volume at the distal aspect of the third, fourth and fifth digits, and erosive changes in the distal phalanges on the left foot. We obtained a magnetic resonance image (MRI) to identify the amount of soft tissue involvement. It revealed hyperintense lesions relative to muscle along the nail beds of multiple digits on the left foot compatible with the clinical history of periungual fibromas.
Prior to surgery, conservative treatment options included custom molded shoes or orthopedic accommodative shoes, but the patient revealed that these were not satisfactory options for her. The patient exhausted all conservative treatment prior to surgical planning.
Pertinent Insights On Treatment And Post-Op Care
The patient underwent surgical removal of the periungual fibromas on her left foot. We excised the soft tissue masses on the left third, fourth and fifth digits, all of which measured 2 cm. During the excision of soft tissue, we performed an amputation of the distal portion of the distal phalanx to ensure proper wound closure. Pathologic findings for the samples submitted for the left third, fourth and fifth digits revealed skin with papillomatosis and fragment of benign bone, consistent with periungual fibromas.
The patient received postoperative instructions to bear weight as tolerated on the left upper extremity with a surgical shoe and single point cane assist.
Postoperative radiographs revealed partial amputation of the distal phalanges and postoperative changes consistent with removal of the tumors on the left third, fourth and fifth digits. The patient returned for regular follow-up visits for two years. The only complication was dehiscence of the left fourth digit incision site, possibly due to the wound being closed under excess tension. The dehiscence healed within two weeks and no recurrence was noted.
Multiple periungual fibromas caused by tuberous sclerosis occur in 25 percent of adults and young adults, and are highly specific for the disease with the onset generally occurring after adolescence.6 These fibromas can cause a great deal of discomfort and pain to the patient by placing pressure on the nail matrix and bone.7
Treatment is generally based on the extent of deformity and or invasion of the soft tissue structures surrounding the periungual fibromas.8 The recurrence rate of periungual fibromas is high and careful, aggressive resection is necessary to achieve permanent treament.7
In most cases, there is not much thought that goes into surgically removing these small benign tumors. However, in this case study, more planning was required. Due to the aggressive nature of the tumors, we needed to amputate part of the distal phalanges along with the fibromas. Without the partial amputation of the bone, closure of the wound could not have occurred.
When one is presented with aggressive periungual fibromas, the best option for treatment is to remove the tumors in total with partial amputation of the distal phalanx and nail bed in order to ensure wound closure and the best outcome for the patient.
Dr. Pontious is an Associate Professor in the Department of Podiatric Surgery at the Temple University School of Podiatric Medicine (TUSPM) in Philadelphia. She is a Fellow of the American College of Foot and Ankle Surgeons.
Ms. Mahmood is a fourth year podiatric medical student at Temple University School of Podiatric Medicine. She active in many leadership roles at the school which include the Treasurer of the Class of 2012. She is the immediate past Treasurer of the TUSPM Student Council.
1. Tuberous Sclerosis Alliance. What Is TSC? January 10, 2011. Available at http://www.tsalliance.org/pages.aspx?content=2
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