Juvenile polyposis of infancy associated with paracentric inversion and deletion of chromosome 10 in a Hispanic patient: a case report.

Juvenile polyposis of infancy is a rare genetic disorder, involving multiple hamartomatous polyps of the gastrointestinal tract, which usually has a very aggressive clinical course and is often fatal. It is characterized by early onset (during the 1st months of life) and by diffuse juvenile polyposis with anemia, recurrent gastrointestinal bleeding, diarrhea, rectal prolapse, intussusception, protein-losing enteropathy, starvation, and malnutrition. There is a hypothesis that mutation of the tumor-suppressor genes BMPR1A and PTEN, located on the long arm of chromosome 10, is associated with the development of this disease.

Rhabdomyomatous mesenchymal hamartoma presenting as a skin tag in the sternoclavicular area.

Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare congenital lesion of the dermis and subdermis. It has been described predominantly in newborns, with 30 cases reported in the English literature. Typically, it appears as a skin tag, papule, nodule or a mass involving the face or sternal notch.

Fibrocartilaginous dysplasia (fibrous dysplasia with extensive cartilaginous differentiation).

Fibrocartilaginous dysplasia is a variant of fibrous dysplasia in which extensive cartilaginous differentiation is identified. The amount of cartilage varies from case to case, however, no percentage has been proposed to consider this diagnosis. We present a 6-year-old girl with a two-year history of hip pain.

Desmoplastic fibroma-like tumor of maxillofacial region associated with tuberous sclerosis.

Desmoplastic fibroma is a rare primary tumor of bone that histologically and biologically mimics the extra-abdominal desmoid tumor of soft tissue. It usually presents in patients during the first three decades of life and often involves the mandible or long bones of the skeleton. Its clinical behavior is characterized by a locally aggressive, infiltrating, and destructing course, often with invasion of surrounding tissues but without metastasis.

Giant cell fibroblastoma in a 3-year-old boy.

Giant cell fibroblastoma (GCF) is a rare soft tissue tumor most often discovered during the first two decades of life. We present a case of a 3-year-old boy with a history of a recurrent lesion in the knee, the tumor growth progressively and enlarged to 2.1 cm in the previous two years before diagnosis.

Renal medullary carcinoma in a six-year-old boy with sickle cell trait.

Renal medullary carcinoma (RMC), an aggressive malignant epithelial neoplasm, first emerged as a distinct clinicopathologic entity in 1995. It affects individuals 40 years of age or younger and is strongly associated with sickle cell disease or trait. The majority of patients with RMC have widely disseminated disease at the time of diagnosis and most fail to respond to both chemotherapy and radiotherapy.