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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.
Whole-body MRI showed multiple areas …
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.
Provenance and peer review Not commissioned; externally peer reviewed.