Penguin Radiology Syndromes and Multisystem Dz

Odontogenic cysts, dural calcifications, ovarian fibromas
Aka nevoid basal cell carcinoma syndrome
Gorlin syndrome
nevus flammeus (port-wine stain which is a cutaneous hemangioma), venous and lymphatic malformations (varicose veins) and soft-tissue hypertrophy of the affected limb (extremity hyper trophy), hemimegaencephaly, may include splenic hemagiomas
Klippel-Trenauney syndrome
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Overgrowth disorder – macroglossia, macrosomia, midline abdominal wall defects, hemihypertrophy, ear creases or ear pits, neonatal hypoglycemia
Beckwith Wiedeman syndrome
Aka “hemangioma with thrombocytopenia”- anemia, thrombocytopenia and consumptive coagulopathy, rare disease, usually of infants, vascular tumor leads to decreased platelet counts and sometimes other bleeding problems, splenic hemangiomas are common
Kasabach Merritt syndrome
angiomatosis, hemangioblastomas of brain stem, cerebellum or spinal cord, multiple pheochromocytoma, renal cell carcinoma bilateral or multifocal, pancreatic cysts (pancreatic serous cystadenoma), endolymphatic sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women).
Mutations of the von Hippel-Lindau tumor suppressor (VHL) gene on the short arm of chromosome 3 (3p25-26)
Von Hippel Lindau
Auto dom, dermatological lesions, cystic lung dx, multiple oncocytomas an RCCs
Birt-Hogg-Dube
Variant of FAP below”familial colorectal polyposis” autosomal dominant, multiple colon polyps, extracolonic tumors (may include desmoid tumors, osteomas of the skull, papillary thyroid cancer, epidermoid cysts, (DOPE) ),fibromas,
Gardner syndrome
Autosomal dominant, innumerable premalignant adenoma tours polyps and small bowel, gastric hyperplastic nonmalignant polyps
Familial adenomatous polyposis (FAP)
FAP variant with CNS tumors, glioma and medulloblastomas
Turcot syndrome
aka HNPCC, autosomal dominant, DNA ,mismatch repair, leads to colon Ca a/w endometrial, gastric, enteric, liver and biliary malignancy
Lynch syndrome
Noninherited, hamartomatous polyps in GI tract with cutaneous pigmentation, alopecia and nail malformation
Cronkite-Canada
Autosomal dominant, multiple hamartomatous pedunculated polyps, (usu small bowel) with perioral mucocutaneous blue/brown pigmented spots on lips and gums, a/w gynecological neoplasms and gastric, duodenal and colon malignancy
Peutz-Jehgers
Autosomal dominant, multiple hamartomatous polyps in skin and mucous membranes and GI tract. A/w increased thyroid Ca (follicular), oral, Breast and skin malignancy.
Also, A/w Lhermitte-Duclos aka “dysplasia cerebellar gangliocytoma” which is part hamartoma and part neoplasm. Classic is corduroy lesion in cerebellar hemisphere.
Cowden syndrome
Patellar tendon origin injury on patella
Sinding Larsen Johanssen syndrome
Ovarian pathology, peritoneal fluid and pleural fluid
Meigs syndrome
Congenital fusion of 2 or more cervical vertabrae, a/w scoliosis,
spina bifida, kidneys and rib anomalies, cleft palate, respiratory problems, heart malformations. short stature, congenital elevation of the scapula known as Sprengel’s Deformity
Klippel-Feil syndrome
Congenital elevation of the scapula
Sprengels Deformity
Diffuse fatty replacement of the pancreas with exocrine insufficiency, neutropenia and bone dysplasia, second most common cause of childhood pancreatic atrophy
Shwachman-Diamond
Autosomal recessive glucocerebrosidase deficiency causing accumulation of glucocerebrosides in the RES.
Causes splenomegaly and splenic nodules, osseous Erlenmeyer flask deformity of femurs, AVN of femoral heads, H-shaped vertebral bodies (due to end plate AVN)
Gauchers disease
Optic pathway juvenile pylocytic astrocytoma,
Neurofibomatosis type 1
Pituitary and parathyroid adenoma with pancreatic islet cell tumor – usu gastrinoma
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