Syndromes Flashcards
MEN I
1) Pituitary Gland Tumor (commonly prolactinoma)
2) Parathyroid Gland Tumor (commonly hyperplasia)
3) Pancreatic Islet Cell Tumor (commonly gastrinoma)
MEN IIA
1) Parathyroid gland hyperplasia
2) Paragangliomas
3) Medullary thyroid cancer
MEN IIB
1) Paragangliomas
2) Medullary thyroid cancer
3) Marfinoid habitus
4) Ganglioneuromas/Mucosal neuromas
Carney Complex
1ry Features - Blue nevi skin pigmentation - Cardiac myxomas 2ry Features - Extra-cardiac myxoma - Pituitary adenoma - Psammomatous melanotic schwannoma - Testicular tumors
CREST Syndrome
1) Calcinosis of the skin
2) Raynaud’s phenomenon
3) Esophageal dysmotility
4) Sclerodactyly
- Localized thickening/tightening of fingers/toes)
5) Telangiectasia
Potter Sequence
Mom takes ACEi during pregnancy
- -> Agenesis of fetal kidneys kidneys
- -> Oligohydramnios
- -> Pulmonary hypoplasia
Prune Belly Sequence
Eagle-Barrett Syndrome
1) Abdominal wall defect
2) Microcystis
3) Hydroureteronephrosis
4) Cryptorchidism
Beckwith-Wiedemann
1) Wilms tumors
2) Organomegaly
3) Hemihypertrophy
4) Macroglossia
5) Omphalocele
Sotos
1) Wilms tumors
2) Ugly faces
3) Mental retardation
WAGR
Wilms tumors
Aniridia
Growth retardation
Drash
1) Wilms tumor
2) Progressive glomerulonephritis
3) Pseudohermaphroditism
Caffey Disease
Kids have extreme periosteal rxn
VACTERL
1) Vertebral anomalies
2) Anorectal atresia/Imperforate anus
3) Cardiac anomalies
4) TrachoEsophageal fistula
5) Renal abnormalities
6) Limb deformities/radial ray anomalies
CHARGE Syndrome
1) Coloboma
2) Heart defect
3) Atresia of choanae
4) Retardation
5) GU abnormalities
6) Ear abnormalities
PHACES Syndrome
1) Posterior fossa abnormality
2) Hemangiomas
3) Arterial anomalies
4) Coarctation of aorta + other heart defects
5) Eye abnormalities
6) Subglottic hemangioma
Kasabach-Merrit Syndrome
1) Hemangioendothelioma
2) Hemolytic anemia
3) Consumptive coagulopathy
Goldenhar Syndrome
1) Hemifacial microsomia
2) Pulmonary aplasia
3) Rib abnormalities
Li Fraumeni Syndrome
Mutation of p53 –> predisposition for cancer (100% lifetime risk of Ca by age 70yo)
- Sarcomas –> osteosarcoma, rhabdomyosarcoma
- CNS –> gliomas, medulloblastoma, choroid plexus carcinoma
- Leukemia
- Breast ca (25% pts, young ~ 33yo)
- Adrenal cortical carcinoma
Joubert Syndrome
1) Vermian aplasia (“molar tooth midbrain”)
2) hepatic fibrosis
3) Multicystic dysplastic kidneys
Alport Syndrome
1) Shrunken kidneys w/ cortical calcs
2) Hematuria
3) Multiple leiomyomas
BRCA 1/2
General - Tumor suppressor genes - Breast Ca, Ovarian Ca (most common genetic mutation associated w/ these cancers) - Prostate Ca - Pancreatic Ca BRCA 1 (chromosome 17) - Dense breasts w/ triple -ve cancer BRCA 2 (chromosome 13) - Inc risk male breast cancer
Basal Cell Nevus Syndrome
Gorlin-Goltz
1) Multiple basal cell cancers
2) Craniofacial Abnormalities
- Odontogenic keratocysts
- Frontal bossing
- Macrocephaly
- Cleft lip
- Agenesis of CC
3) MSK
- Shortened 4th MCs
- Bifid ribs
4) Tumors
- Medulloblastoma
- Cardiac fibromas
- Fetal rhabdomyomas
- Calcified ovarian fibroma
Wallenberg Syndrome
Cause –> infarct to lateral medulla (PICA)
S/S
- Loss pain, temp sensation to contralateral body + ipsilateral face
- Ataxia
- CN IX/X palsy
Carcinoid Syndrome
Cause –> serotonin produced by carcinoid tumor when it metastasizes to liver
Lab Test –> Urine 5-HIAA (5-HydroxyIndoleAcetic Acid)
S/S
- Flushing
- Diarrhea
- Pain
- Right heart failure (degrades TV)
McCune-Albright Syndrome
Occurs in young girls
1) Polyostotic fibrous dysplasia
2) Cafe-au-lait spots
3) Precocious puberty
Mazabraud Syndrome
Occurs in middle-aged women
1) Polyostotic fibrous dysplasia
2) Myxomas
3) Inc risk malignant transformation
Jaffe-Campanaci Syndrome
1) Multiple NOFs
2) Cafe-au-lait spots
3) Mental retardation
4) Hypogonadism
5) Cardiac malformations
Ollier Disease
1) Multiple enchondromas
2) Slight inc risk chondrosarcoma
Maffucci Syndrome
1) Multiple enchondromas
2) Soft tissue hemangiomas
3) Inc risk chondrosarcoma
POEMS Syndrome
1) Polyradiculopathy
2) Organomegaly
3) Endocrinopathy
4) Monoclonal gammopathy w/ sclerotic bones
5) Skin changes
- Thicker skin
- More pigmentation
Multiple Osteochondroma Syndromes
1) Multipple Hereditary Exostosis
- Inc risk of malignant transformation
2) Trevor-Fairbanks Disease (Dysplasia Epiphysealis Hemimelica)
- Dev’t of osteochondromas at epiphysis which point into jt
- Typically seen in ankles + knees
Engelmann’s Disease
Bilateral, symmetric fusiform enlargemnt of long bones w/ sclerosis
SAPHO Syndrome
- Synovitis
- Acne
- Pustulosis
- Hyperostosis
- Osteitis
Arthritis Syndromes
1) Felty Syndrome
- RA (for over 10yr)
- Splenomegaly
- Neutropenia
2) Caplan Syndrome
- RA
- Silicosis
3) Adult-Onset Still Disease
- RA affecting carpal/CMC jts
- High fevers
- Salmon coloured rash
Currarino Triad
Form of caudal regression syndrome w/…
- Anterior sacral meningocele
- Anorectal malformation
- Scimitar sacrum
Nail Patella Syndrome
Fong Disease
- Bilateral posterior iliac horns
- Absent/hypoplastic patella
- Hypoplasia of radial head
Plummer-Venson Syndrome
1) Cervical esophageal web
2) Fe-deficiency anemia
Hereditary Non-Polyposis Colorectal Cancer
Lynch Syndrome
Mutation of DNA Mismatch Repair Genes
1) Colorectal carcinoma
2) GU Cancers
- Endometrial
- Ovarian
- Prostate
- Urothelial tract
3) Small bowel cancer (duodenum > jejunum)
4) Gastric cancer
5) Hepatobiliary malignancies
6) Pancreatic malignancies
7) GBM
Familial Adenomatous Polyposis Syndrome (FAP)
1) Gardner Syndrome
- Multiple colonic adenomatous polyps
- Extracolonic hyperplastic polyps (stomach, duodenum)
- Multiple osteomas
- Epidermoid cysts
- Desmoid tumors
- Fibromatosis
2) Turcot Syndrome
- Multiple colonic adenomatous polyps
- Extracolonic hyperplastic polyps (stomach, duodenum)
- CNS tumors (GBM, Medulloblastoma)
Cowden Syndrome
1) Hamartomatous GI polyps
2) Mucocutaneous lesions
3) Glycogenic acanthosis
4) Thyroid adenomas, goiters (inc risk cancer)
5) Fibrocystic dz of breast (inc risk cancer)
6) Lhermitte-Duclos lesion
Peutz-Jeghers Syndrome
- STK11 gene mutation
1) Hamartomatous polyps
2) Mucocutaneous pigmentation (mouth, fingers, toes)
3) Inc risk of… - Intussusception
- GI tract adenoCa
- Adenoma malignum
- Breast ca
- Pancreatic Ca
- Ovarian, Uterine, Cervical Ca
- Testicular Ca (Sertoli tumors)
- Lung Ca
Cronkhite-Canada Syndrome
1) Hamartomatous polyps (stomach, large bowel)
2) Clinical Triad
- Rash
- Alopecia
- Watery diarrhea
*** Not hereditary
Juvenile Polyposis Syndrome
1) Hamartomatous polyps
2) Clinically rectal bleeding, obstruction, intus
3) Associated w/…
- Malrotation
- Meckel’s diverticulum
- Hydrocephalus
- Congenital heart dz
Achondroplasia
Abnormal Fibroblast Growth Receptor
1) Rhizomelia
2) Large skull w/ frontal bossing
3) Short skull base w/ anteriorly displaced foramen magnum
- Inc risk hydro
4) Bullet-shaped vertebrae
5) Trident hands
6) Narrowing of interpedicular distance
7) Posterior scalloping of vertebral bodies
8) Gibbus deformity T/L-spine
9) Small, squared iliac bones w/ flattening of acetabuli
Thanatophoric Dysplasia
Most common lethal dwarfism
1) Micromelia
2) “Telephone receiver” femurs
3) “Clover leaf” skull
4) Platyspondyly
5) Small iliac bones
6) Bell-shaped thorax w/ short ribs
Pseudoachondroplasia
Same as achondroplasia but not present at birth + spares skull
Pyknodysostosis
1) Osteopetrosis
2) Wormian bones
3) Acro-osteolysis
4) Wide angled mandible
Osteogenesis Imperfecta
Collagen defect –> brittle bones
1) Lucent skull
2) Multiple fractures w/ callus
3) Wormian bones
4) Flat or beaked vertebrae
Osteopetrosis
Osteoclastic dfect –> disorganized, weak sclerotic bone
1) “Bone-in-bone” appearance of vertebrae, carpals, tarsals
2) “Picture frame” vertebrae
3) Alternating bands of sclerosis parallel to growth plate
4) Diffusely sclerotic bones
5) Erlenmeyer flask deformity
Klippel Feil
1) Congenital fusion of C-spine vertebrae
2) Cervical spine vertebrae tall, skinny
3) “Sprengel Deformity” –> high-riding scapula
4) Omovertebral Bone –> large osseous bar that connects scapula to C-spine
Mucopolysaccharidoses
1) Oval shaped vertebrae w/ anterior beaking
2) Platyspondyly
3) Thoracolumbar kyphosis
4) “Canoe paddle ribs”
5) Iliac wings tall + flared
6) Wide MC/MT w/ proximal tapering
Gaucher’s Disease
1) AVN of femoral heads
2) H-shaped vertebrae
3) Bone infarcts
4) Erlenmeyer flask deformity
Neurofibromatosis Type 1
von Recklinghausen Disease
1) Cutaneous
- Cafe-au-lait spots
- Lymphostasis –> hyperemia –> local overgrowth
2) CNS
- Optic pathway gliomas
- 1ry sphenoid dysplasia w/ exophthalmos
- FASI in deep WM or basal ganglia
- Spinal astrocytoma
- Neurofibromas/Schannomas
3) Thoracic
- Lateral meningoceles
- Rib notching
4) Abdo/Pelvis
- Wilms tumors
- AML
- Pheochromocytoma
5) Vascular
- Aneurysms
- AVMS
- Renal artery stenosis
- Coarctation of aorta
6) MSK
- Dural ectasia w/ posterior vertebral scalloping
- Enlarged neural foramina
- Scoliosis
- Multiple NOFs
- Gracile bones
- Tibial pseudoarthrosis
- Rhabdomyosarcoma, Leiomyosarcoma
Neurofibromatosis Type 2
1) Meningiomas (intracranial + spinal)
2) Spinal ependymomas
3) Schwannomas of vestibular/trigeminal/spinal nerves
Tuberous Sclerosis
1) Cutaneous
- Facial angiofibromas
- Hypopigmented macules (“ash leaf spots”)
- Retinal hamartomas
2) CNS
- Cortical/Subcortical tubers
- Subependymal nodules
- SEGA
3) Thorax
- LAM
- Cardiac rhabdomyomas
- Thoracic duct aneurysm
- Aortic aneurysm
- Pulmonary artery aneurysm
4) Abdo/Pelvis
- Renal cysts
- Renal AMLs
- RCC
- Retroperitoneal LAM
5) LAM
- Bone cysts
- Scoliosis
- Hyperostosis of calvarium
Von Hippel-Lindau Disease
1) CNS
- Cerebellar hemangioblastoma
- Spinal hemangioblastoma
- Retinal hemangioblastoma
- Endolymphatic sac tumor
- Choroid plexus papilloma
2) Abdo/Pelvis
- Pheochromocytomas
- Renal cysts, RCC
- Cysts, Islet cell tumors, Serous cystadenomas
- Cystadenomas epididymis/round ligament
Sturge-Weber Syndrome
1) Collateral vessels in subarachnoid space
2) Facial capillary venous malformation in V1 distribution
3) Ipsilateral cerebral atrophy w/ calc
4) Ipsilateral gyral enhancement
5) Ipsilateral enlarged sinuses
6) Ipsilateral enlarged choroid plexus
7) Ipsilateral enlarged globe
Waterhouse-Friderichsen Syndrome
Bilateral adrenal hemorrhage in context of fulminant Neiserria meningitis in paeds.
Wolman Disease
Bilateral enlarged adrenals in kids.
CLASH Syndrome
Cryoglobulinema Leukemia RA Sjogren HepB
*Also associated w/ PAN
Pendred Syndrome
1) Bilateral SNHL
20 Thyroid goiter
Gradenigo Syndrome
1) Retro-orbital pain
2) Abducens nerve palsy
3) Petrous apicitis
Ramsay-Hunt Syndrome
1) Vesicular eruption
2) Facial nerve palsy
3) Otic pain
Samter Triad & Kounis-Zavras Syndrome
Samter Triad
1) Asthma
2) Nasal polyposis
3) Aspirin sensitivity
Kounis-Zavras Syndrome
- Coronary vasospasm in response to allergen
- Can be associated w/ aspirin sensitivity
