Pediatric Dermatology Consult

What's the diagnosis?

A 12-year-old otherwise healthy male was referred for a 3-month history of a mass on his left shoulder. It appeared 4 months ago and continued to grow rapidly. The lesion was asymptomatic, and the review of systems was otherwise negative. No personal or family history of similar tumors or genetic conditions were noted.
On physical exam there was a well-circumscribed skin-colored nodule measuring 3.1 x 3 cm that was tender on palpation. The nodule was mobile, with a firm, stony feel, and no punctum was visualized. Transillumination revealed a subtle bluish hue within the nodule.

What's your diagnosis?

Plexiform neurofibroma

Pilomatrixoma

Epidermoid cyst

Dermatofibroma

Dermatofibrosarcoma protuberans

Conclusion

Pilomatrixomas are a benign adnexal tumor that sometimes can present as atypical forms such as this case. Diagnosis is usually based on clinical diagnosis, and transillumination can be a bedside clue. When the clinical diagnosis remains obscure an ultrasound can be helpful. The main aim of this case is to improve awareness of the variable presentations of pilomatrixomas and the importance of high level of suspicion supported by careful clinical evaluation.

Dr. Eichenfield is vice chair of the department of dermatology and professor of dermatology and pediatrics at the University of California, San Diego, and Rady Children’s Hospital, San Diego. Dr. Al-Nabti is a clinical fellow in the division of pediatric and adolescent dermatology, University of California, San Diego. Dr. Guelfand is a visiting dermatology resident in the division of pediaric and adolescent dermatology, University of Califonia, San Diego.

References

1. Jones CD et al. Am J Dermatopathol. 2018;40:631-41.

2. Hu JL et al. Arch Craniofac Surg. 2020;21(5):288-93.

3. Adhikari G and Jadhav GS. Cureus. 2022;14(2):22228.

4. Cóbar JP et al. J Surg Case Rep. 2023;2023(4):rjad182.

5. Schwarz Y et al. Int J Pediatr Otorhinolaryngol. 2016;85:148-53.

6. Kose D et al. J Cancer Res Ther. 2014;10(3):549-51.

7. Sabater-Abad J et al. Dermatol Online J. 2020;26(8):13030/qt4h16s45w.

8. Alkatan HM et al. Int J Surg Case Rep. 2021;84:106068.

9. Pant I et al. Indian J Dermatol. 2010;55:390-2.

10. Kaddu S et al. Am J Dermatopathol. 1996;18(4):333-8

11. Schwarz Y et al. Int J Pediatr Otorhinolaryngol. 2016;85:148-53.

12. Wang YN et al. Chin Med J (Engl). 2021;134(16):2011-2.

13. Yannoutsos A et al. Am J Dermatopathol. 2018;40(9):690-3.

14. Zhao A et al. Ear Nose Throat J. 2021;1455613211044778.

Pages

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