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Genodermatoses Melissa > Malignancy > Flashcards

Malignancy Flashcards

1
Q

Gorlins

Inheritance

Gene

Age at presentation

Key features

A

Inheritance: AD
Gene : PTCH1 gene on 9q22-31
Age at presentation : birth (bossing, skeletal), childhood: (BCC, jaw)
Key features:
Skin: BCCs, palmarplantar pits, milium, epidermoid cysts
MSK: jaw cysts (odontogenic keratocytsis)(lining with malignant potential), frontal bossing, bifid ribs, vertebral fusion, kyphoscoliosis
CNS: calcification of falx cerebri, agenesis of corpus callosum, medulloblastoma, mental retardation (less common)
Eyes: hypertelorism, congenital blindness, cataracts, colobomas, strabismus
Genitorurinary: ovarian fibromas, fibrosarcoma.

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2
Q 
Gorlins 
DDx
Ix
Mx
Prognossi
A

DDx:
Bazex syndrome, Rombo syndrome, Unilateral linear naevoid BCC, Melanocytic naevi, Xeroderma pigmentosa
Investigations: Skin bx, skeletal surveys
Management: referral to dentist/oral surgeon, ophthal, neurologist
Photoprotection, consider oral retinoids, C&C, imiquimod
Avoid radiotherapy/xrays
Prognosis : normal life span if no other malignancies develop

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3
Q

Peutz-jegher
Inheritance

Gene

Age at presentation

A

Inheritance: AD
Gene : STK11 gene
Spontaneous mutation – approximately 40%
Age at presentation: birth to first few years (pigmented macules), first to 3rd decade of life (polyps)

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4
Q

Peutz jegher

Clinical

A

Skin: pigmented macules 0.2-7mm: periorificial, lips, buccal mucosa, digits, nails, palms, soles, mucosal. All except mucosal will fade with time.
GIT: hamartomatous polyps: small intestine > large intestine, GIT bleeding, intersussception, obstruction, adenoCA
Neoplasm: increased incidence of ovarian, breast and pancreatic CA

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5
Q

Peutz jegher
DDx

Investigations

Management

Prognosis

A

DDx: LEOPARD, carney complex, laugier-hunziker, cronkhite-cannida, addisons, gardner
Investigations: scopes, mammography
Management: gastro referral, ob/gyn exam
Prognosis :normal lifespan if malignancy detected early.

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6
Q

Muir-Torre syndrome
Inheritance
Gene
Age at presentation

Key features

A

Inheritance: AD
Gene : MSH 1 and 2
Age at presentation : 5th-6th decades of life (internal malig usually 1st)
Key features: Skin sebaceous tumors eg: sebaceous adenoma, sebaceous CA, hyperplasias, epitheliomas, BCC with sebaceous differentiation, KA
NEOPLASMS: adenoca of the colon, genitourinary tract, lung, breast, haematological malignancies

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7
Q

Muir tORRE
DDx

Investigations

Management

Prognosis

A

DDx: Cowden, Gardner
Investigations: Skin bx, endoscopy/colonoscopy, cystoscopy

Management: close f/u malignancy
Gastroenterologist , UROLOGY
Prognosis : malignancies usually low grade with good prognosis

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8
Q

Dyskeratosis congenita
Inheritance

Gene
age at onset

A

Inheritance: X linked recessive – most common, can be AD
Gene:DKC1 gene (most common)
Age at presentation : 1st decade of life (skin, nail, mucosal)

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9
Q

Dyskeratosis congenita

Key features

A

Skin: reticulated grey-brown hyperpigmentation on neck, face, trunk, upper thighs, hypopigmentation and telangiectasias. Palmar/plantar hyperkeratosis, hyperhidrosis, friction bullae, acrocyanosis. Hair: thinning
Haem: fanconi’s type pancytopenia with secondary infection, bleeding
Mouth & mucous membranes: premalignant leucoplakia of the tongue, buccal mucosa, pharynx, dental caries, early loss of teeth
Eyes: blepharitis, conjunctivitis, lacrimal duct obstruction with epiphora, ectropion
CNS: mild – mod mental retardation (50%)

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10
Q

Dyskeratosis congenita

DDx

Investigations

Management

Prognosis

A

DDx: fanconi syndrome, pachyonychia congenital, rothmund-thomson, chronic GVHD
Investigations: Bone marrow, mucosal bx
Management: photoprotect, refer haem, gastro, opthal
Prognosis : death usually 20s-30s from malignancy eg SCC, GIT haemorrhage, opportunistic infection

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11
Q

Gardner

Inheritance

Gene

Age at presentation

A

Inheritance: AD
Gene : APC gene
Age at presentation: infancy to early childhood (bone, skin), 2nd to 4th decade

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12
Q

Gardner

Key features

A

Key features:
Skin: epidermoid cyst (head and neck but can occur toe, scalp, shin), fibromas
MSK: osteomas
GIT: polyposis, risk of adenoCA, desmoid tumours (post abdo surgery, uteral or intestinal obstruction)
Eyes: Congenital hypertrophy of retinal pigment epithelium (CHRPE)
Teeth: Odontomaws, supernumerary teeth

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13
Q

Gardner
DDx

Investigations

Management

Prognosis

A

DDx: Epidermoid cysts, familial polyposis coli, turcot syndrome
Investigations: colonoscopy, endoscopy, skeletal survey, DNA analysis
Management: Referral: gastro, ophthal, dentist
Prognosis : if total colectomy prior to mets, then normal life span

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14
Q

Cowden
Inheritance

Gene

Age at presentation

A

Inheritance: AD
Gene : PTEN
Age at presentation : 2nd to 3rd decade, range from 4-75

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15
Q

Cowden

Clinical features

A

Key features:
Skin: facial tricholemmomas, Oral papillomas (cobblestone) appearance on lips, gingival, labial, buccal mucosa, oropharynx
Acral keratotic papules, palmoplantar translucent punctate keratoses, lipomas, angiomas
Breasts: fibrocystic disease, fibroadenomas, adenoCA, gynaecomastia
Thyroid: goiter, adenomas, thyroglossal duct cysts, follicular adenoCA
GIT: hamartomatous polyps
Genitorurinary: ovarian cysts, menstrual irregularities
Craniofacial/skeletal: adenoid facies, high arches palate, craniomegaly, kyphoscoliosis.

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16
Q

Cowden
DDx

Investigations

Management

Prognosis

A

Cowden
DDx : lipoid proteinosis, muir-torre, MEN2b, TS
Investigations:
Mammography, thyroid scan, TFTs, FBC, urinalysis, stool guiaic

Management
Referral gynae:pelvic exam, breast screen
Endo – thyroid, gastroenterologist

Prognosis: normal if CA detected early

17
Q

Conditions associated with GI malignancy

A 
Peutz-jegher
Gardner
Cowden
Muir-torre
Dyskeratosis congenita : tongue
18
Q

MENIIb
DDx

Investigations

Management

Prognosis

A 
DDx 
MENIIA-Sipple
NF1
Marfan
Investigations:
serum/urine calcitonin
urine catecholamine
thyroid scan/tfts
abdominal ct/uss 
barium enema

Management
Refer to thyroid, gastro, ophthal,

Prognosis : normal if thyroid CA detected early, otherwise 20-30

19
Q

MEN Type IIB

Inheritance

Gene

Age at presentation

Key features

A

Inheritance: AD spontaneous in 50%
Gene : RET protooncogene
Age at presentation : birth to few years of life (mucosal lesions may proceed)
Key features:
Mucocutaneous: mucosal neuromas, thickened, blubbery lips
Endocrine: medullary CA of the thyroid, phaeochromocytoma
MSK: marfanoid
Eyes: conjunctival neuromas, upper eyelids thickened everted; thickened white medullated nerve fibres in cornea.
GIT: ganglioneuromatosis with secondary megacolon, diarrhoea constipation

20
Q

Birt – Hogg Dube

Inheritance

Gene

Age at presentation

Key features

DDx

Investigations

Management

Prognosis

A

Inheritance: AD
Gene : BHD gene
Age at presentation: >25 often
Key features
Skin:fibrofolliculomas, trichodiscomas, acrochordons
Kidney: renal cell CA
Lung: recurrent spontaneous penumothoraces, lung cysts, bullous emphysema
DDx: Cowden, TS, brooke-spiegler, rombo, basaloid follicular haemartoma`
Investigations: skin Bx, CT/renal USS
Management: referral to renal, resp, screen all 1st year relatives for kidney and lung manifestations

Prognosis : good if renal cell ca detected early

21
Q

Xeroderma pigmentosum
Inheritance
Pathogenesis
Age at presentation

Key features

DDX

Ix
Mx

A

Inheritance: AR
Age at presentation : first few years of life
Pathogenesis: mutations in genes encoding DNA repair enzymes leads to defective excision repair upon exposure to UV radiation
DDx: Erythropoeitic protoporphyria, congenital erythropoietic porphyria, blood syndrome, cockayne syndrome, hartnup, rothmund Thomson
Ix: DNA analysis, UDS assay from cultured skin fibroblasts
Mx: Photoprotection, physical blockers, 3 monthly skin checks, window tinting
Referral ophthal, neurologist
Support group
Isotretinoin to prevent new cancers

22
Q

XP

Key features

A

Acute sun sensitivity in infancy
Then (in order)
Pigmented macules, achromic macules, telangiectasias
Dry, scaly, atrophic with narrowing of mouth and nares
AKs, KA, 1000x increased risk for BCC, SCC, MM
Eyes: photophob ia, conjunctivitis, telangiectasia, pigmentation of lid, conjunctiva, ectropion, benign lid papillomas
Neuro (20%) – esp A&D: progressive neurologic degeneration, mental retardation, sensorineural deafness, hyporeflexia, spasticity, ataxia, with/without microcephaly

23
Q

Syndromes associated with BCC

A

Gorlins, rombo, Basex-dupre-christol
Rombo:
Basex-dupre-christol: X-linked dominant inherited disorder of the hair follicle characterised by:
• Follicular atrophoderma (breakdown of follicles on the skin) of the extremities
• Multiple basal cell carcinomas of the face
• Milia
• Localised or generalised hypohidrosis (diminished sweating)
• Hypotrichosis (reduced body and scalp hair).

Genodermatoses Melissa (7 decks)

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