BCC Flashcards
(25 cards)
RFs for BCC
UVR exposure (Intermittent > Cumulative)
- outdoor occupation
- equatorial location
Age
Fair skin
Male Sex
Personal Hx of BCC
Personal Hx of Actinic keratoses / signs of photodamage
FHx of BCC
Immunosuppressed
Hx of PUVA / isonisation radiaiotn
Chronic arsenic exposure
Solarium use
Gene and inheritance of Basal Cell Naevus Syndrome
PTCH 1 on chromosome 9
SUFU
Autosomal Dominant
List the clinical features of Basal Cell Naevus Syndrome?
Multiple BCCs from an early age
Skin tags
Palmar Pits (occur in 65%)
Milia
Epidermoid cysts
Multiple dermal naevi
Macrocephaly
Frontal Bossing
Hypertelorism
Broad nasal root
Ketatocystic odontogenic Jaw tumous
Skeletal issues
- bifid or mishaped ribs,
- vertebral and other skeltal abnormalities
- spina bifida
- scoliosis / kyphosis
- syndactyl
- cleft lip / palate
Dysgenesis of the corpus callosum
Calcificaiton of the faux cerebri
Bicornate uterus
Hypogonadism in males
Ocular abnormalities
- cataracts
- congenital blindness
Susceptibility to other cancers:
- rhabdomyosarcoma
- ovarian and cardiac fibromas
- medulloblastoma
List the diagnostic criteria of Basal cell naevus syndrome
Need for:
- two major criteria ,
- one major and two minor criteria
- or one major with molecular confirmation
Major: “BBC POM”
- BCCs (< 20 years or excessive number based on RFs)
- Blood relative = First degree relative
- Calcification of falx cerebri (bilamellar)
- Palmar/plantar piting
-
Odontegnic (keratocystic) tumours (before 20)
-** M**edulloblastoma (typically desmoplastic)
Minor: “MRS COOL”
- Macrocephaly
- Rib abnromalities
- Skeletal malformations - scoliosis, kyphosis, short 4th metacarpals
-
Cleft lip or palate
-Oovarian or cardiac fibroma
-Oocular abnormalities - strabismus, hypertelorism, cong cataracts, glaucoma
-Llymphomesenteric cysts
The histopathology of BCCs with basal cell naevus syndrome are indistinguishable from sporadic BCCs
True
Approach to management for a patient with suspected Basal cell naevus syndrome?
- History
- Examination
- Investigations:
Imaging
- X- RAY: chest and skull
- cardiac and pelvic USS
- Brain MRI
- Managment
MDT management
Genetics - PTCH1, SUFU testing
Dental / Max fax surgery
Opthal
GP to help coordinate care / mental health plan
Oncology - Skin specific:
- general measures: sun protection / avoidance
- regular FSE
- Management of BCCs
–> surgical excision
–> C + C
–> Mohs
–> Cryosurgery
–> PDT
–> 5FU
–> Aldara
- consider oral acitretin to supress new BCCs (evidence not as good as SCCs)
- Consider Hedgehog inhibitors
- Vesmodegib or Sonidegib
NB: radiotherapy is contraindicated
Side effects of hedgehog inhibiotrs
Cramps
Loss of taste
Alopecia
Nausea / Diarrhoea
Fatigue
Menstural irragularities
Consitpation
Hepatotoxiticy
QT prolongation
Explain the pathophysioloy of Basal cell naevus Syndrome to a patient
Inherited condition due to a mutation in the PTCH1 gene
The PATCHED (PTCH1) gene is a tumour suppressor gene encoding sonic hedgehog transmembrane receptor protein. As this is not working, you have an increased risk of developing BCCs and other features
Number and type of skin lesions very variable both within and between families
Normal life span if BCCs treated early on and no other malignancies develop
List the cutaneous features of Basal Cell Naevus Syndrome
- Multiple BCCs
- Skin tags
- Palmar pits
- Dermal Naevi
- Marcocephaly
- hypertelorism
- broad nasal bridge
- Skeletal - scoliosis, kyphosis, shortened 4th metacarpals, syndactyl
Inheritance of Basez Dupre Christol Syndrome? and the gene?
X linked Dominant
ACTRT1
Multiple BCCs plus these examination findings.
What are the examination findings.
Whar is your preferred diagnosis
What other features are seen in this condition?
clinical freatures:
- hypotrichosis
- follicular atrophoderma
Triad of congenital hypotrichosis + follicular atrophoderma + multiple BCCs = Basez Dupre Christol syndrome
Milia 65% - Face and limbs
Hypohidrosis or anhidrosis 54%
Dry skin
Trichoepithelioma
Epidermoid cyst
Characteristic facies
Hyperpigmentation
What is the clinical sign?
Facial Milia
What is the clinical sign?
Ice pick scars on the back of the hands = Follicular atrophoderma
Basez Dupre Chrisol is associated with Medulloblastoma
False - no internal malignancy association
What is Brooke Spiegler Syndrome?
What is the Gene?
What is the inheritance?
Key features?
A rare genetic condition
Gene: Cylindromatosis gene = CYLD gene
Inheritance: Autosomal dominant
Resulting in a range of tumours derived from skin appendages (hair follicle tumours and sweat gland tumours)
Most common:
Cylindromas — solitary or multiple tumours on the scalp
Trichoepitheliomas — skin-coloured papules over the central face
Spiradenomas — painful nodules on head, neck and trunk
Associations with Brook Speidler Syndrome?
Cylindromas
Trichoepitheliomas
Spiradenomas
BCC
Spiroadenocarcimo
Cylindrocarcinoma
Parotid and salivary gland tumours
What are the key clinical features of Rhombo Syndrome?
Atrophoderma vermiculatum - characteristic pitted or honeycomb-like scarring on the cheeks and other facial areas
Multiple Milia - small, white cysts that can appear on the face and other parts of the body
Telangectasia
BCCs
Hypotrichosis
Trichoepitheliomas
Peripheral vasodilatation with cyanosis
What is the gene is Basez Dupre Christol Syndrome?
Unknown
What is the gene in Rhombo syndrome?
Unknown
Risk facors for advanced disease (BCC)
PNI (syptomatic»_space; non-symptomatic)
Aggressive histological subtype
Large lesion size
Delayed presentation - Prolonged neglect, Lack of access to care, psychosocial factors
List non-surgical treatments for BCC - include dose and success rates where appropriate
Imiquimod (toll like receptor inhibitor)
- 5% cream applied 5 x per week for 6 weeks
- 69 -100% of sBCC, and 42 - 76% of nBCC
5 FU
- 5% topical cream, BD
PDT
- Daylight or red light / blue light
- photsensitising agne: Methyl aminolaevulinate or 5-aminolaevulic acid)
- 86% clearacne
Intralesionsal Interferon alph 2 beta
- 98% cure rate
- access is an issue
Radiotherapy
Electrochemotherapy
Hedgehog inhibiotrs - Vismodegib and Sonidegib
- SMO inhibiotrs
- metastatic or locally advanced BCC
List surgical treatments for BCC
Cryosurgery
- double freeze / thaw cylce
- need tmep of -50 - 60 degrees
- 95.3 % cure
C+C
- 91 - 97% cure rates, lower in high risk areas
- avoid in hair bearing areas
Standard surgical excision wtih 4mm clinical margin
Mohs
Laser therapy
- superpulsed CO2
-
Which agent is preferred Vismodegib or Sonidegib?
Vismodegib
- higher overall response rates and complete response rates for both locally advanced and metastatic BCC
- also few GI and muscle side effects
Rook
Clinical BCC subtypes
Superficial
Nodular
Morpheaform
Ulcerative
