Juvenile papillomatosis of the breast in a male infant with Noonan Syndrome, café au lait spots, and family history of breast carcinoma

Abstract

Juvenile papillomatosis (JP) of the breast is a rare condition, usually affecting women under 30 years of age. Although this is considered a benign lesion, follow-up is recommended for the patient and family since there is an association with a family history of breast carcinoma and increased risk of development of breast carcinoma. We report an infant with JP, Noonan syndrome (NS), café au lait spots, and family history of breast carcinoma. Seven previously reported cases of JP in males exist, two occurring in infants. The association between JP and NS has not been previously reported.

Benign Breast Diseases: Classification, Diagnosis, and Management

“…There are only eight male juvenile papillomatosis cases reported in the literature [92]. This disease is associated with a heightened risk for breast cancer.…”

Juvenile papillomatosis of the breast associated with neurofibromatosis 1

“…At this age, café‐au‐lait spots are frequently the only manifestation of NF1; however, the majority of young children with multiple café‐au‐lait spots will ultimately be diagnosed with NF1 9,10. In one of these reported cases a diagnosis of NS had been made, based upon the presence of unilateral cryptorchidism, gastroesophageal reflux, long QT interval, and hypertrophic cardiomyopathy 1. On the basis of the clinical information presented, and the fact that a mutation in the PTPN11 gene 11 was not detected, we think it is more likely that this boy has ‘Neurofibromatosis‐Noonan syndrome’ (NFNS), a diagnosis that was also proposed by the authors.…”

“…Of these, three occurred prior to 2 years of age and the remainder occurred between ages 11 and 33 years. Although JP has not been reported in association with NF1, it is notable that multiple café‐au‐lait spots were observed in two of the three boys diagnosed with JP prior to age 2 years 1,7. At this age, café‐au‐lait spots are frequently the only manifestation of NF1; however, the majority of young children with multiple café‐au‐lait spots will ultimately be diagnosed with NF1 9,10.…”

“…To the Editor: Recently in this journal Pacilli et al 1 described juvenile papillomatosis (JP) of the breast in a male with a proposed diagnosis of Noonan syndrome (NS) and café‐au‐lait spots. We describe here a male with neurofibromatosis 1 (NF1) who was diagnosed with JP at age 9 months.…”

“…JP is a benign lesion that typically occurs in young women, including some with a family history of breast cancer 3. In males, JP is exceedingly rare, having been reported only on eight occasions 1,4–8. Of these, three occurred prior to 2 years of age and the remainder occurred between ages 11 and 33 years.…”