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Category Archives: Syndrome
Neurofibromatosis type 1
Neurofibromatosis type 1
• gene NF1, on chromosome 17
• neurofibromas throughout body = plexiform neurofibroma or solitary neurofibroma
• cafe au lait spots = hyperpigmented spots (increased melanin in basal layer)
• Lisch nodules = pigmented nodules on the iris
• many other tumors: neuroblastoma, ganglioneuroma, Wilms, lipoma, GIST, pheochromocytoma
Posted in Syndrome
Tagged cafe au lait spot, Cafe-au-lait spots, Lisch nodules, Neurofibroma, Neurofibromatosis, Neurofibromatosis 1, Neurofibromatosis type 1, NF1, Plexiform Neurofibroma
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Neurofibromatosis type 2
Neurofibromatosis type 2
• gene NF2, on chromosome 22q12
• bilateral acoustic (actually vestibular) CNVIII schwannomas
• multiple meningiomas
• gliomas, usually ependymomas
Posted in Syndrome
Tagged Acoustic schwannoma, ependymoma, glioma, Meningioma, Neurofibromatosis, Neurofibromatosis 2, Neurofibromatosis type 2, Neurofibromatosis type 2 syndrome, NF2, NF2 syndrome, Schwannoma
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Tuberous Sclerosis
Tuberous Sclerosis
- autosomal dominant transmission or sporadic
Genetics
TSC1: hamartin, TSC2: tuberin
Pathology
Brain and Retina → hamartomas (glial)
Lungs and Heart → myomas
Kidneys → angiomyolipomas, cysts
Liver and Pancreas → cysts
Skin → angiofibromas
Posted in Syndrome
Tagged Angiofibroma, Angiofibromas, Angiomyolipoma, Facial angiofibroma, hamartin, Hamartoma, myoma, TSC1, TSC2, tuberin, Tuberous sclerosis
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von Hippel Lindau
von Hippel Lindau Syndrome
• multifocal and bilateral
• VHL (von Hippel Lindau) tumor suppressor gene is hypermethylated or mutated
• maps to 3p25
Features of von Hippel Lindau syndrome
→ pheochromocytomas
→ Hippel
→ multicystic kidneys
→ retinal hemangiomas, cerebellar hemangioblastomas
Posted in Syndrome
Tagged cerebellar hemangioblastomas, Hippel, multicystic kidneys, Pheochromocytoma, pheochromocytomas, retinal hemangiomas, VHL, VHL gene, VHL tumor suppressor, von Hippel Lindau
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Sturge Weber Syndrome
Sturge Weber Syndrome
- skin and brain angiomas
- in trigeminal nerve distribution
Posted in Syndrome
Tagged Angioma, Sturge Weber, Sturge-Weber syndrome, Syndrome, Trigeminal nerve distribution
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Juvenile Polyposis Syndrome
Juvenile Polyposis Syndrome
Inheritance: sporadic or autosomal dominant
often mutations in PTEN or smad4/dpc4
Diagnosis criteria:
a) >5 colorectal juvenile polyps
b) juvenile polyps in entire GI tract
c) any polyps in a patient with a family history of Juvenile Polyposis Syndrome
Gross: peduculated polyp
Histology
- eroded surface with reactive and regenerative epithelium
- cystically-dilated glands
- prominent stroma with a mixed inflammatory infiltrate
Genetics: SMAD4, BMDR1A mutation
Associations: adenomas, cancers of the stomach to colon and pancreas
Posted in Syndrome
Tagged BMDR1A, GI syndrome, Juvenile Polyposis, Juvenile Polyposis Syndrome, Pedunculated polyps, SMAD4, Syndrome
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Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
Inheritance: Autosomal dominant with incomplete penetrance
Genetics: STK11 germline mutations
Diagnosis criteria:
a) 3+ Peutz-Jeghers polyps
b) Peutz-Jeghers with family history
c) mucocutaneous pigmentation and Peutz-Jeghers polyp or family history
Gross: large, lobulated, pedunculated polyps resembling adenomatous polyps
Histology:
- hyperplasia of epithelium with arborizing branches of smooth muscle
- surface regenerative changes with erosion
Genetics: 95% overall cancer risk
- screening and surveillance of gastrointestinal and gynecologic organs:
Gastrointestinal
Gynecologic, Breast: Ovary, Uterus, Cervix, Breast
PEUTZ-JEGHERS SYNDROME
Inheritance: AD w/ incomplete penetrance
Genetics: STK11 germline mutations
Dx criteria:
a) 3+ PJ polyps
b) PJ w/ family hx
c) mucocutaneous pigmentation + PJ polyp or family hx.
Gross: large, lobulated, pedunculated polyps resembling adenomatous polyps
Micro:
-HP of epithelium with arborizing branches of smooth muscle
-surface regenerative changes with erosion
Genetics: 95% overall ca. risk! ®so, screening and surveillance of GI and gyne organs:
GI
Gyne/Breast: Ovary, Uterus, Cervix, Breast
Inheritance: AD w/ incomplete penetrance
Genetics: STK11 germline mutations
Dx criteria:
a) 3+ PJ polyps
b) PJ w/ family hx
c) mucocutaneous pigmentation + PJ polyp or family hx.
Gross: large, lobulated, pedunculated polyps resembling adenomatous polyps
Micro:
-HP of epithelium with arborizing branches of smooth muscle
-surface regenerative changes with erosion
Genetics: 95% overall ca. risk! ®so, screening and surveillance of GI and gyne organs:
GI
Gyne/Breast: Ovary, Uterus, Cervix, Breast
Posted in Syndrome
Tagged Peutz-Jeghers polyp, Peutz-Jeghers polyps, STK11, STK11 germline mutations, STK11 mutation
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Cowden’s Syndrome
Cowden’s Syndrome
Inheritance: Autosomal dominant
Features
- multiple hamartomas
- risk of breast and thyroid cancer
Histology:
- hamartomatous polyps with disorganization, proliferation and splaying of muscularis mucosa
Genetics: germline PTEN mutations in 70%
Differential diagnosis:
- Peutz-Jeghers
Posted in Syndrome
Tagged Cowden's Syndrome, Hamartoma, Hereditary sydromes, Hereditary syndrome, Multiple hamartomas, PTEN, PTEN mutation
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Sjogren’s Syndrome
Sjogren’s Syndrome
What is Sjogren’s Syndrome?
Sjogren’s Syndrome is a chronic autoimmune disease which affects the lacrimal and salivary exocrine ducts. Also affects the GI tract and respiratory tract and vagina and kidney
Clinical features of Sjogren’s Syndrome:
• keratoconjunctivitis
• xerostomia
• nasal septum perforation
• pulmonary fibrosis
Sjogren’s Syndrome pathology:
Minor and major salivary glands:
1. periductal and perivascular lymphocytic infiltrates.
2. lymphoid hyperplasia with follicle centres
3. fibrosis, atrophy of ducts
4. fat replacement of parenchyma
Sjogren’s Syndrome Kidney Disease:
- tubular interstitial nephritis
Sjogren’s Syndrome Antibodies:
• ANA, RF
• ANS → specific Ab are SS-A and SS-B
How to diagnosis Sjogren’s Syndrome:
- biopsy of the lower lip to check minor salivary glands
Posted in Syndrome
Tagged , autoimmune disease, keratoconjunctivitis, nasal septum perforation, pulmonary fibrosis, Sjogren's syndrome, Sjogren's syndrome antibodies, Sjogren's syndrome antibody, Sjogren's syndrome autoimmune disease, Sjogren's syndrome diagnosis, Sjogren's syndrome disease, Sjogren's syndrome kidney disease, xerostomia
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Fragile X Syndrome
Fragile X Syndrome
- second most common cause of MR
- X-linked disorder
What is the nucleotide repeat sequence?
-trinucleotide expansion of FMR gene of “CGG”
What are the clinical features?
- long face, big ears,
What is Sherman’s paradox?
- risk of MR higher in grandson than the brother of the transmitting male. Because the premutation is amplified to a mutation during oogenesis → resulting in all males with MR and 50% of females.
What is anticipation?
-mutation gets worse with each generation.
What is the difference between premutations and mutations?
- premutations: normal transmitting males and carrier females
- mutations (>230 repeats) → results inactivation of FMR1
Posted in Syndrome
Tagged , Anticipation, Fragile X Syndrome, nucleotide repeat sequence, Premutation, Sherman’s paradox, Syndrome, Trinucleotide repeat expansion, X-linked disorder
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