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Dermatology Board Prep > DERM (09) Genodermatoses > Tumor Syndromes > Flashcards

Tumor Syndromes Flashcards

1
Q

What is the gene and inheritance pattern of Basal cell nevus syndrome (Gorlin syndrome)

A

PTCH (patched tumor suppressor protein)

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2
Q

What is the underlying pathophysiology in basal cell nevus syndrome (Gorlin syndrome)?

A

Patched normally inhibits smoothened (when uninhibited signals intracellularly and activates GLI1/2 which is a transcription factor to promote transcription of genes involved in cellular growth) –> basal cell nevus syndrome results from a mutation in the Patched gene

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3
Q

What are the major criteria of Basal cell nevus syndrome (Gorlin syndrome)?

A

Needs 2 for confirmation (or one major and 2 minor)

  • >2 BCC or 1 before the age of 20
  • Palmoplantar pits (>3)
  • Odontogenic keratocyts of the jaw, histologically proven
  • Calcification of the falx cerebri
  • Medulloblastoma
  • First degree relatives with Basal cell nevus syndrome (Gorlin syndrome)
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4
Q

What are the minor criteria for Basal cell nevus syndrome (Gorlin syndrome)?

A

Rib anomalies (bifid most commonly, also fused, or markedly splayed)

  • Cleft lip/palate
  • Skeletal anomalies (pectus excavatum or pectus carinatum, polydactyly, syndactyly, kyphoscoliosis, Sprengel deformity, or other vertebral anomalies
  • Macrocephaly
  • Ovarian/cardiac fibroma
  • Lyphomesenteric cysts
  • Ocular abnormalities (strabismus, hypertelorism, congenital cataracts, glaucoma, and colobomas
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5
Q

What are the clinical findings in Basal cell nevus syndrome (Gorlin syndrome)?

A

Multiple, early-onset (usually around puberty), BCC [*Note: these can look like nevi milia, SK). These also favor sun-exposed areas like the face, neck and upper torso, but can occur in non-sun-exposed skin too

  • Medulloblastoma usually presents in the first 3 yrs of life
  • The palmoplantar pits are present in childhood
  • The odontogenic keratocyst of the jaw need to be histologically proven, usually asymptomatic and then present late in the first decade of life
  • All abnormalities listed as minor criteria (they like to test on bifid ribs, frontal bossing, ovarian/cardiac fibroma) can occur
  • Also, can see an increased risk of fibrosarcoma, rhabdomyosarcoma, cryptorchidism, gynecomastia, agenesis of corpus callosum, ovarian fibromas, and cardiac fibromas
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6
Q

What is the treatment of Basal cell nevus syndrome (Gorlin syndrome)?

A

Standard BCC treatments plus you can use targeted therapy with vismodegib (acts as an artificial patched, inhibits smoothened

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7
Q

What syndromes are associated with increased basal cells?

A

Gorlin, Bazex-Dupré-Christol, Rombo, Brooke-Spiegler, xeroderma pigmentosum, and Schöpf-Schulz-Passarge

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8
Q

What is the gene and the mode of inheritance for Birt-Hogg-Dubé syndrome?

A

BHD gene (folliculin)

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9
Q

When do the manifestations of Birt-Hogg-Dubé begin?

A

Third decade or later

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10
Q

What are the cutaneous findings of Birt-Hogg-Dubé?

A

Fibrofolliculomas, trichodiscomas, and acrochordons

  • Clinically these looks like multiple tiny skin-colored to white papules on the face
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11
Q

What is the histology of the fibrofolliculomas’s / trichodiscomas seen in Birt-Hogg-Dubé?

A

These have slender strands of basophilic cells radiating from a follicular unit, surrounded by a fibrous stroma, can have a “bat-wing” appearance

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12
Q

What are the systemic findings in Brooke-Spiegler syndrome?

A

Salivary and parotid gland tumors

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13
Q

What are the extracutaneous findings in Birt-Hogg-Dubé?

A

Renal cell carcinoma and spontaneous recurrent pneumothorax (w/ lung cysts and bullous emphysema)

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14
Q

What is the gene and mode of inheritance for Brooke-Spiegler syndrome?

A

Gene: CYLD (tumor suppressor, is a deubiquitinating enzyme which interacts w/ NEMO to downregulate NFkappaB expression)

  • AD
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15
Q

What are the skin findings in Brooke-Spiegler syndrome?

A

Presents in adolescence/early adulthood

  • Cylindromas (Papules/nodules on scalp)
  • Trichoepitheliomas (skin-colored to white small facial papules)
  • Spiradenomas (Painful nodules on head/neck and elsewehre)
  • Multiple BCC
  • Can also see malignant degeneration into cylindro- and spiradenocarcinoma
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16
Q

What is the gene and mode of inheritance for multiple endocrine neoplasia (MEN) syndrome I (MEN1)?

A

MEN1 gene mutation (menin)

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17
Q

What are the tumors seen in multiple endocrine neoplasia (MEN) syndrome I (MEN1)?

A

3 p’s

Pituitary (prolactinoma most common)

  • Parathyroid (can present w/ kidney stones from calcium/phosphate derangements as the tumor is hyperplasia/adenoma)
  • Pancreas (Zollinger elison sometimes, stomach ulcers) [tumors are usually islet cell hyperplasia, adenomas, or carcinoma]
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18
Q

Cutaneous findings in multiple endocrine neoplasia (MEN) syndrome I (MEN1)?

A

Can look like tuberous sclerosis: facial angiofibromas, gingival papules, hypopigmented macules and CALM

19
Q

What is the gene and mode of inheritance for MEN IIA?

A

RET proto-oncogene

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20
Q

What neoplasias are seen in MEN IIA?

A

Parathyroid hyperplasia (not in IIB)

  • Medullary thyroid carcinoma (everyone)
  • Pheochromocytoma
21
Q

What are the skin findings in MEN IIA?

A

Lichen amyloidosis and macular amyloidosis

This get’s asked a bit

22
Q

What is the gene and mode of inheritance for MEN IIB?

A

RET gene as well

AD

23
Q

Skin findings in MEN IIB?

A

Remember that this is also called multiple neuroma syndrome, so:

  • Mucosal neuromas on tongue/lips
  • thickened lips
  • Marfanoid habitus
24
Q

What are the endocrine findings in MEN IIB?

A

Ganglioneuromatosis –> megacolon, diarrhea, and constipation

25
Q

What is the gene and mode of inheritance for Cowden syndrome (multiple hamartoma syndrome)?

A

PTEN

  • AD
26
Q

What is the pathophysiology of Cowden syndrome (multiple hamartoma syndrome)?

A

PTEN is a tumor suppressor gene, loss of it leads to a proliferation of cutaneous/GI/mucosal/thyroid/breast tissues

27
Q

What syndrome is PTEN also mutated in?

A

Bannayan-Riley-Ruvalcaba which is like Cowden syndrome + pigmented macules on the glans penis, lipomas, macrocephaly, and mental retardation.

Some rarer forms of Proteus syndrome can also be PTEN but usually AKT1

28
Q

What are the cutaneous findings in Cowden syndrome (multiple hamartoma syndrome)?

A

Sclerotic fibromas, facial tricholemmomas (skin-colored to light brown small papules), punctate palmoplantar keratoses, keratotic papules (acral keratoses) [These acral keratoses occur on the dorsal hands/feet/forearms/legs], lipomas, skin tags, and inverted follicular keratoses

29
Q

What are the oral findings in Cowden syndrome (multiple hamartoma syndrome)?

A

Small skin-colored grouped papillomas leading to a “cobblestone” appearance on the lips and gingival/buccal/labial mucosa

  • These are effectively fibrofolliculomas of the mouth
30
Q

What are the thyroid findings in Cowden syndrome (multiple hamartoma syndrome)?

A

Goiter, adenomas, and carcinoma (follicular carcinoma most commonly)

31
Q

Breast findings in Cowden syndrome (multiple hamartoma syndrome)?

A

Fibrocystic disease, fibroadenomas, and adenocarcinoma (most common malignancy in Cowden’s overall, up to 50% of female pts)

32
Q

What are the GI findings in Cowden syndrome (multiple hamartoma syndrome)?

A

Hamartomatous polyps along GI tract, low risk of malignancy

33
Q

In general what cancers are seen in Cowden syndrome (multiple hamartoma syndrome)?

A

#1 Breast cancer (in women)

  • Follicular thyroid cancer
  • Endometrial carcinoma (10% of female pts)
  • GU carcinomas/cysts
34
Q

What MSK abnormalities can be seen w/ Cowden syndrome (multiple hamartoma syndrome)?

A

Craniomegaly (80% of pts), adenoid facies, kyphoscoliosis, bone cysts, large hands/feet

35
Q

What is Lhermitte-Duclos disease?

A

Dysplastic gangliocytoma of the cerebellum

Presents w/ overgrowth of cerebellar ganglion cells leading to ataxia, seizures and increased intracranial pressure

this is pathognomonic criterion for Cowden’s

36
Q

What is the gene involved and the method of inheritance for Gardner syndrome?

A

APC gene (adematous polyposis coli)

AD

37
Q

Pathogenesis of Gardner syndrome?

A

APC is a tumor suppressor gene that regulates Beta-catenin

38
Q

What are the cutaneous manifestations of Gardner syndrome?

A

Epidermoid cysts (classically w/ pilomatricoma changes), fibromas (in the skin subcutaneous and mesentery/retroperitoneal areas), lipomas

39
Q

What are the GI manifestations of of Gardner syndrome?

A

Premalignant polyposis throughout the GI tract

  • Also see desmoid tumors, locally aggressive but don’t metastasize female>male can occur post-surgically after resection and these can lead to obstruction

Huge increase in the risk of adenocarcinoma, especially high in the colon/rectum where 100% of affected pts get it

40
Q

What are the ocular manifestations of Gardner syndrome?

A

congenital hypertrophy of retinal pigment epithelium (CHRPE; 70%)

41
Q

What are the other tumors that can be seen in Gardner syndrome?

A

Osteomas (skull/mandible/maxilla; 80% of pts, painless), odontomas of teeth, supernumerary teeth, papillary thyroid carcinoma in women, hepatoblastoma, adrenal adenomas, sarcomas, pancreatic carcinomas, and brain tumors

42
Q

What is Turcot syndrome?

A

Gardners but w/ glioblastomas and medulloblastomas

43
Q

What is the treatment for Gardner syndrome?

A

Prophylactic colectomy when polyp formation is first evident, usually in the 2-3rd decade

DERM (09) Genodermatoses (13 decks)

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