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OPath II - Soft Tissue Lesions > Neural Related Lesions II > Flashcards

Neural Related Lesions II Flashcards

1
Q

How common is neurofibromatosis?

A

Relatively common hereditary disorder that is estimated to occur in 1/3000 births

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2
Q

How many different forms are there of neurofibromatosis? Most common?

A

8 different forms

Most common = NF type I (NF1)

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3
Q

What is another name of NF1 neurofibromatosis?

A

Von Recklinghausen’s disease

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4
Q

What causes NF1?

A

Variety of mutations in the NF1 gene which is responsible for a tumor suppresor protein product known as neurofibromin

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5
Q

What kind of inheritance pattern does NF1 follow?

A

autosomal dominant

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6
Q

Where do neurofibromatosis lesions (multipl neurofibromas) occur?

A

Can occur everywhere but most often on the skin

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7
Q

What is the appearance of neurofibromatosis lesions?

A

Appearance varies from small papules to larger skin nodules to massive, baggy, pendulous masses on the skin

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8
Q

What clinical feature is pathognomonic for NF1?

A

Plexiform variant of neurofibroma which feels like a bag of worms

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9
Q

What are the major clinical features of neurofibromatosis?

A

Multiple neurofibromas

Cafe-au-lait pigmentation of the skin (6 or more)

Crowe’s sign (axillary freckling)

Lisch nodules

HTN

Oral Lesions

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10
Q

What is the appearance of lisch nodules?

A

translucent brown pigmented spots on the iris (2 or more)

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11
Q

What is the characteristic of oral lesions in neurofibromatosis?

A

Enlargement of fungiform papillae

Radiographic findings:

Enlargement of mandibular foramen

Enlargement or branching of the madnibular canal

Increased bone density

Concavity of the medial surface of the ramus

Increase in dimension of the coronoid notch

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12
Q

What signs are needed to diagnose neurofibromatosis?

A

2 of the following:

6 or more cafe au lait macules

2 or more neurofibromas of any type of 1 plexiform neurofibroma

2 or more lisch nodules

1st degree relative with NF1

Freckling in axial or inguinal regions

Optic glioma

Distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone cortex

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13
Q

Tx for neurofibromatosis

A

Tx directed at prevention and management of complications

facial neurofibromas are removed for esthetics

No specific therapy for NF1

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14
Q

What is one of the most feared complications of neurofibromatosis?

A

developmeny of cancer, most often a malignant peripheral nerve sheath tumor (neurofibrosarcoma or malignant schwannoma)

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15
Q

What is the average lifespan of patient with NF1?

A

15 years less than normal

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16
Q

What disease did the elephant man have?

A

Thought to be neurofibromatosis but had proteus syndrome (ddx)

17
Q

What is paraganglioma?

A

Tumors that arise from paraganglia

18
Q

What are paraganglia?

A

specialized tissues of neural crest origin that are associated with the autonomic nerves and ganglia throughout the body (some are chemoreceptors like the carotid body)

19
Q

What are the most common sites of paraganglioma lesions?

A

Head and neck lesions are hte most ocmmon site

20
Q

What is the most common paraganglioma tumor?

A

carotid body tumor which develops at the bottom of the bifurcation of the internal and external carotid bodies

21
Q

Tx for paraganglioma

A

May include surgery, radiation therapy or both depending on extent and locatoin of tumor

22
Q

What is multiple endocrine neoplasia (MEN) type 28?

A

tumors or hyperplasia of the neuroendocrine tissues

23
Q

What type of MEN has the most oral manifestations?

A

type 2B

24
Q

What are the clinical features of MEN?

A

Marfanoid body build (thin, elongated limbs and muscle wasting)

Narrow face with thick land protuberant lips because of the difuse proliferation of nerve bundles

Pheochromocytomas of the adrenal glands develop and the tumor cells produce catecholamines resulting in symptoms such as sweating, intractable diarrhea, headaches, flushing, HTN, etc

25
Q

What is the most significant complication of MEN?

A

Development of medullar carcinoma of the thyroid gland which occurs in 90% of cases

Marked propensity for metastasis

26
Q

What cells does medullary carcinoma of thyroid gland in MEN arise from?

A

parafollicular cells (C cells) which are responsible for making calcitonin

27
Q

Average age of death for a MEN pt?

A

21 yo

28
Q

What are the lab values in MEN pts?

A

elevated serum or urinary calcitonin (medullary carcinoma of thyroid gland is present)

Increased VMA and epi to norepi ratio (pheochromocytoma present)

29
Q

Tx for MEN?

A

Prophylactic removal of the thyroid gland may be recommended

Pt should be observed for pheochromocytomas because it could result in life threatning hypertensive crisis

30
Q

What is central so a good prognosis for MEN?

A

Early detection given the serious nature of the medullary thyroid carcinoma

31
Q

What is melanotic-neuroectodermal tumor of infancy?

A

Rare pigmented neoplasm that usually occurs during the 1st year of life

32
Q

What is the cel of origin of melanotic-neuroectodermal tumor of infancy?

A

neural crest cells

33
Q

What structure does melanotic-neuroectodermal tumor of infancy usually affect?

A

Strong predilection for maxilla

34
Q

What other sites does melanotic-neuroectodermal tumor of infancy affect?

A

skull epididymis and testis mandible and brain

35
Q

What sex does melanotic-neuroectodermal tumor of infancy usually affect?

A

slight predilection for males

36
Q

Lab values for melanotic-neuroectodermal tumor of infancy

A

High urinary values of VMA (vanillylmandelic acid)

37
Q

are melanotic-neuroectodermal tumor of infancy benign or malignant?

A

Most are benign despite rapid growth and potential to destroy bone

OPath II - Soft Tissue Lesions (8 decks)

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