ABSTRACT

VACTERL association (OMIM 192350) is a non-random combination of multiple congenital malformations including vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies. The wide spectrum of defects suggests the occurrence of defective development during early embryogenesis. The authors report a case of a complex polymalformative association detected by ultrasound in the first trimester of pregnancy. The ensuing fetal study revealed the presence of vertebral, anorectal, renal and limb anomalies and therefore was considered a case of VACTERL association. This complex association generally entails a poor prognosis. Its early detection allows discussion of management options, including medical termination of pregnancy.

Key Clinical MessageAplasia cutis congenita is a disease in which skin, bone, and dura mater can be absent. In majority of the cases it affects the scalp. We report a baby girl born at term with a large scalp and skull defect measuring 9 × 10 cm. Conservative treatment led to complete epithelization.

Metaplastic breast cancer (MBC) comprises less than 1% of all breast cancers, and it is defined by a mixture of adenocarcinoma plus mesenchymal and epithelial components. It is more common in older and black female patients. It has a larger size and faster growth, and it is frequently node-negative and triple-negative when compared with invasive ductal carcinoma. The authors report the case of a 72-year-old female patient, presenting with a breast lump, whose biopsy revealed a probable MBC with chondroid differentiation. She underwent a breast conservative surgery (BCS) and axillary sentinel lymph node dissection (SLND). The pathological report was concordant with the biopsy, and the patient was proposed to chemoradiotherapy. Despite its rarity and more severe features at diagnosis, BCS plus SLND plus radiotherapy should be offered to these patients, associated with chemotherapy. Chondroid differentiation is the rarest of all histological subtypes.

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