ABSTRACT
BACKGROUND: Bloody nipple discharge (BND) is a rare and distressing finding in infants, although its etiology is usually benign. Diagnostic management of BND and breast lesions in children calls for an adapted approach. CASE: We present the case of an 11-month-old girl with unilateral BND and a painless breast mass. Sonographic and histologic examination identified juvenile papillomatosis of the breast. SUMMARY AND CONCLUSION: Juvenile papillomatosis of the breast is a rare cause of breast lesions in young patients with specific sonographic and histologic characteristics. Because of the associated risk of malignancy, surgical excision is the preferred therapy.
Subject(s)
Breast Neoplasms/diagnosis , Nipple Discharge/diagnostic imaging , Nipples/diagnostic imaging , Papilloma/diagnosis , Female , Humans , Infant , Ultrasonography, Mammary/methodsABSTRACT
UNLABELLED: We describe a newborn girl with a life-threatening laryngomalacia and extreme hypotonia. Genetic analysis revealed the very rare genetic condition mosaicism of 48,XXXX and 49,XXXXX (50/50). We here state that the degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The timely insertion of a gastrostomy is warranted in order to prevent aspiration. CONCLUSION: A karyotype is mandatory in female newborns with moderate to severe hypotonia in order to exclude polyploid mosaicism of the X chromosome. An 'overall prognosis' for 48,XXXX and 49,XXXXX girls is difficult to provide towards parents in line with a well-known, substantial variability in outcome for all polysomy X infants.
