Syndromes Flashcards
What are the four major features of Gorlin Syndrome?
- multiple BCCs
- Palmar plantar pitting
- Odontogenic cysts
- Calcification of Falx cerebri
What is the genetics of Gorlin Syndrome?
Autosomal dominant
What are three minor features of Gorlin syndrome?
- Skeletal abnormalities
- Tumors
- Mental retardation
How do you make the diagnosis of Gorlin syndrome?
two major features
one major feature and 1st degree relative
two minor features and 1st degree relative
multiple childhood BCCs
List five skeletal abnormalities that can occur with Gorlin syndrome?
bifid ribs macrocephaly frontal bossing cleft plate ectopic calcifications
Name two tumors besides bcc that may be associated with Gorlin syndrome.
medulloblastoma
ovarian fibroma
What is the genetic pattern of Rombo syndrome
Autosomal dominant
What malignancy is associated with Rombo syndrome.
BCC
What other tumors is associated with Rombo syndrome?
trichoepithelioma
Besides BCC name four features of Rombo syndrome.
- Telangiectasia and peripheral dilation
- Hypotrichosis
- atrophoderma vermiculata, (mostly cheeks and forehead)
- milia
what are the genetics of Bazex-Dupre syndrome
x linked autosomal dominant
Besides bcc list five features of Bazex-Dupre syndrome
- Hypotrichosis (and fragil hair trichorrhexis nodosa, pili torti)
- Hypohydroisis
- Follicular atrophoderma (circumscribed areas dorsum of hands and feet sometimes arms and legs)
- Mila
- Epidermal cysts
Three things that Bazex-Dupre syndrom share with Rombo syndrome
BCC
Milia
hypotrichosis
Two things that Bazex-Dupre syndrome doesn’t share with Rombo syndrome.
Rombo Syndrome has telangiectasia and peripheral dilation.
Bazax-Dupre has hypohidrosis.
How do the atrophodermas differ between Rombo and Bazex syndrome
Rombo is vermicularis of the face
Bazex is follicular of the dorsum of hands and feet.
Ferguson-Smith syndrome is what?
Rapid onset of multiple KAs
What is the leading cause of death in Dystrophic Epidermolysis Bullosa?
SCC
Oculocutaneous Albinism has increase risk of what cancer?
SCC
Epidermodysplasia Verruciformis has increased risk of what type of cancer?
SCC
What virus types are associated with Epidermodysplasia Verruciformis
5 and 8
Name three features of Muir Torre syndrome
sebaceous tumors
Multiple KAs
Cancers of the colon and GU system
BAP1 tumor syndrome is what?
A hereditary autosomal dominant mutation in one of your BAP1 genes which is a tumor suppressor gene.
What are Bapomas?
benign reddish brown intradermal 5mm papules composed of epithelioid melanocytes with large vesicular nuclei.
Where is the most common site of melanoma in BAP1 tumor syndrome
Uveal
Besides Uveal melanoma what are some other malignant tumors associated with BAP1 syndrome?
mesothelioma, renal cell carcinoma, lung, ovarian, breast and pancreatic cancer
What are the three most common cutaneous lesions associated with BAP1 syndrome?
Malignant melanoma
BCC
Bapomas
What is the second most common cancer in FAMMM
pancreatic
Name four features of FAMMM
- > 50 nevi
- melanoma before 30
- Fam hx of melanoma or pancreatic cancer
- Mutation CDKN2A (P16 and P14) tumor suppressor gene.
What is the risk for melanoma in FAMMM
1 every three years.
what is the Li-Fraumeni syndrome
sarcomas (like leiomyosarcoma) leukemias and brain cancer P53 mutation but no increase SCCs or BCCs
90% of autosomal dominant Murr Torre syndrome is due to the mutation in which gene
MSH2
Epidermodysplasia verruciformis which has hypopigmented tinea versicolor macules and verruca plana like papules is associated with what genes and virus
Ever1 & Ever2
HPV 5&8
Epidermodysplasia verruciformis undergoes malignant transformation in what %
35 to 50%
Name 3 syndromes you are likely to see multiple KAs
- Ferguson-Smith (inherited) 100s spontaneously resolve
- Grzybowski syndrome 100s-1000s may not resolve. not inherited, don’t progress to SCC, persist if not txed.
- Muir Torre syndrome tendency to develop KAs
which treatment gives best clearing for AKs in immunosuppressed patients? Photodynamic therapy or 5FU
In immunosuppressed pts it is Photodynamic therapy.
What is the gene mutation in Muir-Torre syndrome
MSH2
