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Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant
  1. Gerarda Mastrogiorgio1,
  2. Paola Sabrina Buonuomo1,
  3. Ippolita Rana1,
  4. Marina Macchiaiolo1,
  5. Paola Marchetti2,
  6. Francesco De Peppo2,
  7. Martina Rinelli3,
  8. Michaela Veronika Gonfiantini1,
  9. Antonio Novelli3,
  10. Andrea Bartuli1
  1. 1Rare Diseases and Medical Genetics, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy
  2. 2Pediatric Surgery, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy
  3. 3Medical Genetics Laboratory, Bambino Gesu Pediatric Hospital, Roma, Lazio, Italy
  1. Correspondence to Dr Gerarda Mastrogiorgio, Rare Diseases and Medical Genetics, Bambino Gesu Pediatric Hospital, 00165 Roma, Italy; gerarda.mastrogiorgio{at}opbg.net

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We present a 9-month-old boy, second child of non-consanguineous healthy parents, born after a full-term pregnancy. At 10th day of life, multiple subcutaneous nodules appeared, which progressively increased in size and number.

The biggest one was evident in the forehead (figure 1); multiple subcentimetric nodules were detectable only on palpation on the trunk. Lesions were unpainful, mobile or fixed.

Figure 1

Frontoparietal fixed subcutaneous nodule.

Whole-body MRI showed multiple areas with stromal …

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Footnotes

  • Contributors GM and PSB wrote the first draft of the manuscript. IR, MM and MVG were involved in clinical management of the patient. PM and FDP were involved in surgical intervention and follow-up. MR and AN were involved in NGS analysis and interpretation of data. AB supervised the work and followed patients during the time.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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