Infantile Digital Fibromatosis

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Background

Infantile digital fibromatosis is a benign asymptomatic nodular proliferation of fibrous tissue occurring almost exclusively on the dorsal and lateral aspects of the fingers or the toes, as is shown in the image below.[1] Reye first described infantile digital fibromatosis in 1965 as a recurring digital fibrous tumor.[2]



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Firm, nontender, erythematous nodule on the fifth finger of a 17-month-old boy.

Pathophysiology

The etiology of infantile digital fibromatosis is unknown. Defective organization of actin filaments in myofibroblasts has been hypothesized. It has been suggested that possible deregulation of the normal bone morphogenetic protein (a member of the transforming growth factor-β superfamily) mediated apoptotic pathway may explain the location of these lesions at the sites of digital septation. Transforming growth factor-β1 also mediates myofibroblast differentiation from fibroblasts.[3, 4]

Epidemiology

Frequency

Infantile digital fibromatosis is rare, with approximately 250 cases reported worldwide.

Sex

Males and females are equally affected by infantile digital fibromatosis.

Age

Most nodules appear in the first few months of life; one third are congenital, and 75-80% are noted during the first year of life. Reports of infantile digital fibromatosis developing in older children and adults are rare.

Prognosis

The prognosis for infantile digital fibromatosis is excellent. Infantile digital fibromatosis is benign, without evidence of malignant transformation or metastases. There may be single or multiple nodules. Infantile digital fibromatosis lesions tend to spontaneously involute without scarring. Rarely, the lesions can cause functional impairment or deformity. Rare cases of ulceration have been reported. The infantile digital fibromatosis lesions tend to grow slowly in the first month, then rapidly grow over about a year, followed by spontaneous resolution over 1-10 years (average 2-3 y). Recurrence is common after excision.

History

Patients with infantile digital fibromatosis are asymptomatic, without associated systemic symptoms.

Physical Examination

Single or multiple, firm, pink, dermal nodules with a smooth dome-shaped surface appear on the dorsolateral aspect of the distal phalanges of the digits. Infantile digital fibromatosis lesions can grow up to several centimeters in diameter. There is often deformity of the affected digit; however, they rarely cause functional impairment. Lesions are more common on the fingers than on the toes and spare the thumbs and great toes. Rarely, more than one digit is involved. Rare extradigital sites reported include the hands, feet, arms, nose, breasts, torso, and tongue.[5]

Complications

The infantile digital fibromatosis lesions rarely cause functional impairment or deformity, but they have become ulcerated in some instances.

Procedures

A skin biopsy can confirm the diagnosis of infantile digital fibromatosis.

Histologic Findings

Unique histologic features are diagnostic of infantile digital fibromatosis. Interlacing fascicles of uniform spindle-shaped myofibroblast cells and collagen bundles are seen in the dermis or subcutis. A characteristic feature is the presence of distinctive, perinuclear, eosinophilic cytoplasmic inclusion bodies. Masson trichrome stains these characteristic perinuclear inclusion bodies red. Immunohistochemical stains are positive for vimentin, cytokeratin, desmin, calponin, and alpha-smooth muscle actin.[6]

See the images below.



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Dermal tumor with interlacing spindle-shaped cells and collagen bundles. Perinuclear eosinophilic inclusion bodies are not visible at this magnificati....



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A dermal nodule extending into the subcutaneous fat.

Medical Care

Because of the benign nature of infantile digital fibromatosis, frequent recurrence after surgery, and tendency toward spontaneous resolution,[7, 8, 9] observation is suggested.[10]

Surgical Care

Of infantile digital fibromatosis lesions, 60-90% are reported to recur with local excision, and surgery is recommended only if there is functional impairment.[11] Mohs micrographic surgery using smooth muscle actin or trichrome stains has been successful in a few cases that required surgery.[12]  Cryotherapy has also been used successfully.[13]

Medication Summary

Topical corticosteroids with or without occlusion have not shown any benefit in infantile digital fibromatosis; however, intralesional corticosteroids or fluorouracil may prove beneficial.[14, 15]

Triamcinolone (Aristocort)

Clinical Context:  Triamcinolone is used for inflammatory dermatosis responsive to steroids. It decreases inflammation by suppressing migration of polymorphonuclear leukocytes and reversing capillary permeability. Triamcinolone can be injected intralesionally.

Class Summary

Anti-inflammatory agents may induce regression of dermal infiltrative lesions.

Fluorouracil (Efudex, Adrucil, Fluoroplex)

Clinical Context:  Fluorouracil is a pyrimidine analogue that has been shown to inhibit dermal fibroblast proliferation and collagen synthesis in cell culture.

Class Summary

These agents inhibit cell growth and proliferation.

Author

Monique Gupta Kumar, MD, MPhil, Assistant Professor of Dermatology, Emory University School of Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Susan Joy Bayliss, MD, Director of Pediatric Dermatology, Departments of Internal Medicine and Pediatrics, St Louis Children's Hospital; Professor, Washington University in St Louis School of Medicine

Disclosure: Nothing to disclose.

Specialty Editors

Michael J Wells, MD, FAAD, Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Disclosure: Nothing to disclose.

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Disclosure: Nothing to disclose.

Additional Contributors

Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France

Disclosure: Nothing to disclose.

Acknowledgements

Theresa Schroeder Devere, MD Assistant Professor of Dermatology, Residency Director, Oregon Health Sciences University

Theresa Schroeder Devere, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

References

  1. Eypper EH, Lee JC, Tarasen AJ, Weinberg MH, Adetayo OA. An Algorithmic Approach to the Management of Infantile Digital Fibromatosis: Review of Literature and a Case Report. Eplasty. 2018. 18:e19. [View Abstract]
  2. Reye RD. Recrring Digital Fibrous tumors of childhood. Arch Pathol. 1965 Sep. 80:228-31. [View Abstract]
  3. Laskin WB, Miettinen M, Fetsch JF. Infantile digital fibroma/fibromatosis: a clinicopathologic and immunohistochemical study of 69 tumors from 57 patients with long-term follow-up. Am J Surg Pathol. 2009 Jan. 33(1):1-13. [View Abstract]
  4. Taylor HO, Gellis SE, Schmidt BA, Upton J, Rogers GF. Infantile digital fibromatosis. Ann Plast Surg. 2008 Oct. 61(4):472-6. [View Abstract]
  5. Kaya A, Yuca SA, Karaman K, Erten R, Dogan M, Bektas MS, et al. Infantile digital fibromatosis (inclusion body fibromatosis) observed in a baby without finger involvement. Indian J Dermatol. 2013 Mar. 58(2):160. [View Abstract]
  6. Choi KC, Hashimoto K, Setoyama M, Kagetsu N, Tronnier M, Sturman S. Infantile digital fibromatosis. Immunohistochemical and immunoelectron microscopic studies. J Cutan Pathol. 1990 Aug. 17(4):225-32. [View Abstract]
  7. Ishii N, Matsui K, Ichiyama S, et al. A case of infantile digital fibromatosis showing spontaneous regression. Br J Dermatol. 1989 Jul. 121(1):129-33. [View Abstract]
  8. Kawaguchi M, Mitsuhashi Y, Hozumi Y, Kondo S. A case of infantile digital fibromatosis with spontaneous regression. J Dermatol. 1998 Aug. 25(8):523-6. [View Abstract]
  9. Niamba P, Leaute-Labreze C, Boralevi F, et al. Further documentation of spontaneous regression of infantile digital fibromatosis. Pediatr Dermatol. 2007 May-Jun. 24(3):280-4. [View Abstract]
  10. Azam SH, Nicholas JL. Recurring infantile digital fibromatosis: report of two cases. J Pediatr Surg. 1995 Jan. 30(1):89-90. [View Abstract]
  11. Spingardi O, Zoccolan A, Venturino E. Infantile digital fibromatosis: our experience and long-term results. Chir Main. 2011 Feb. 30(1):62-5. [View Abstract]
  12. Albertini JG, Welsch MJ, Conger LA, Libow LF, Elston DM. Infantile digital fibroma treated with mohs micrographic surgery. Dermatol Surg. 2002 Oct. 28(10):959-61. [View Abstract]
  13. Kramer A, Har-Shai Y, Metanes I, Harel H, Wollstein R. The Use of Cryotherapy to Treat Infantile Digital Fibromatosis with a Functional Deficit: A Case Report. J Hand Surg Asian Pac Vol. 2018 Jun. 23 (2):278-281. [View Abstract]
  14. Oh CK, Son HS, Kwon YW, Jang HS, Kwon KS. Intralesional fluorouracil injection in infantile digital fibromatosis. Arch Dermatol. 2005 May. 141(5):549-50. [View Abstract]
  15. Holmes WJ, Mishra A, McArthur P. Intra-lesional steroid for the management of symptomatic Infantile Digital Fibromatosis. J Plast Reconstr Aesthet Surg. 2011 May. 64(5):632-7. [View Abstract]

Firm, nontender, erythematous nodule on the fifth finger of a 17-month-old boy.

Dermal tumor with interlacing spindle-shaped cells and collagen bundles. Perinuclear eosinophilic inclusion bodies are not visible at this magnification.

A dermal nodule extending into the subcutaneous fat.

Dermal tumor with interlacing spindle-shaped cells and collagen bundles. Perinuclear eosinophilic inclusion bodies are not visible at this magnification.

Firm, nontender, erythematous nodule on the fifth finger of a 17-month-old boy.

A dermal nodule extending into the subcutaneous fat.