Page 11 Flashcards
syndrome of multiple hamartomas including HAMARTOMATOUS polyposis of the GIT, with goiter and thyroid adenomas and increased risk of breast ca and TCC of the urinary tract, and with mucocutaneous lesions with facial papules, oral papillomas, and palmoplantar keratoses
Cowden disease
phakomatosis associated with colonic polyps, cutaneous tumors, meningioma, glioma, as well as thyroid and breast neoplasms; half of patients with dysplastic cerebellar gangliocytoma has this syndrome
Cowden sidease
inherited ADENOMATOUS polposis coli / FAP syndrome which includes a few polyps in the small bowel, with associated bone and skin abnormalities
including cortical thickening of the ribs and long bones, multiple osteomas of the skull, supernumerary teeth, exostoses of the mandible, and dermal fibromas; desmoids; and epidermal inclusion cysts
Gardner syndrome
aka hepatorenal fossa
Morison’s pouch
familial ADENOMATOUS polyposis syndrome with associated tumors of the CNS
Turcot syndrome
pathologic ring-like stricture at the level of the B ring, caused by reflux esophagitis
Schatzki ring
normal variant, elongated inferior tip of right lobe of liver, >women
Riedel lobe
association of cervical esophageal webs, IDA, and pharyngeal or esophageal ca
Plummer-Vinson syndrome or Paterson-Kelly syndrome
consists of 1) dlated small bowel loops, 2) air in biliary tree or gallbladder, and 3) calcified gallstones in ectopic location
Rigler triad
occur in the lower abdominal wall lateral to the rectus abdominis and inferior to the umbilicus through a defect in the aponeurosis of the transversus abdominis and internal oblique muscles
Spigelian hernias
systemic disorder affecting the GIT, joints, CNS, and LNs, which may present with arthritis, neurologic symptoms, or steatorrhea
Whipple disease
entrap only a portion of the bowel wall without compromising viability
Richter hernias
most common subtype (type IA) of glycogen storage disease to affect the liver
von Gierke’s disease
Bile duct hamartomas
von Meyenburg complexes
copper deposition
Wilson disease
acrocephalosyndactyly consisting of suture closure, midfacial hypoplasia, and symmetrical syndactyly of the hands and feet. Characteristic skull findings at birth are closed coronal suture and midline calvarial defect from glabella to the posterior fontanelle, producing a wide metopic suture area. Cerebral anomalies are common. Cervical spine fusion is common and almost always involves C5-C6 (vs C2-C3 in Crouzon’s syndrome)
Apert’s syndrome
caused by gastrin-secreting islet cell tumor (gastrinoma), resulting in unusually severe and refractory ulcer disease, accompanied by diarrhea
Zollinger-Ellison syndrome
craniofacial dysostosis; characterized by craniosynostosis, exophthalmos, and midface retrosuion. Other findings include prominent digital markings in the skull (>90%), stylohyoid ligament calcification, and nasal septal deviation. Maxilla is hypoplastic. Spinal anomalies usually consist of C2-C3 fusion.
Crouzon’s syndrome
acrocephalosyndactyly type 1 - craniosynostosis with hypertelorism, midface hypoplasia, and cervical spine anomalies; severe symmetric hand and foot syndactyly
Apert syndrome
mandibulofacial dysostosis; antimongoloid slant to the eyes, flat cheekbones, small mandible, dysplastic ears, deafness, coloboma, and deficient lashes in the lower eyelids. Radiographic findings: marked hypoplasia of the zygomatic arches, maxilla, and paranasal sinuses. Egg-shaped orbits. Sometimes, with external and middle ear involvement.
Treacher Collins syndrome
Enthesophyte that arises from the posteroinferior portion of the glenoid rim, often seen in baseball pitchers and probably arising at the site of insertion of the posterior band of the inferior glenohumeral ligament complex
Bennett’s lesion
fracture at the base of the thumb into the carpometacarpal joint
Bennett fracture
fracture of the base of the thumb that does not involve the joint
psuedo-Benett fracture
comminuted fracture of the base of the thumb that extends into the joint
Rolando fracture
