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Naevi & Dev defects Dan Flashcards

1
Q

T/F

Cutaneous anomalies due to chimerisim in humans are always pigmentary

A

True
Chimerisim = the presence of 2 or more genetically distinct cell populations in an individual derived from 2 different zygotes
Can occur by the fusion of dizygotic twin embryos or by the fertilization of a single ovum by 2 sperm
There are two different normal clones of cells rather than one normal and one abnormal as in mosaicism

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2
Q

What is epidermal naevus syndrome?

A

Occurs in 10% of kids with an epidermal naevus
Remember:NCI(eye)S SHALER
Naevus – non-epidermolytic verrucous, organoid, SCAP or comedo – can extend to mucosa, eyes and nails
CNS -seizures, paresis, developmental delay/retardation
Eyes – extension of naevus, colobomas, lipodermoids, corneal opacity
Skeletal – limb defects, scoliosis

Skin – naevi, melanocytic naevi, haemangiomas, CALMs, spitz naevi, lipomas, cyclindromas
Heart
Aortic coarctation
Liver
Endocrine – precocious puberty SIADH, Vit D resistant rickets
Renal and GU

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3
Q

What are the features of lumbosacral infantile hameangioma? What is management?

A 
(L)LUMBAAR – 
Lumbosacral haemangioma, often ulcerated
Lipoma or other skin lesions
Urogenital anomalies 
Myelopathy (dysraphism)
Bony deformities
Anorectal malformations
Arterial anomalies
Renal anomalies
investigate even if neurologically normal – USS under 4 months of age, MRI if older
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4
Q

What is PHACES syndrome?
Who gets it?
How do you procede?

A

Association of a large segmental facial infantile haemangioma (>5cm) with one or more significant malformations - 70% only have IH + one feature
90% are female;
PHACES
Posterior fossa defects (Dandy-Walker most common)
Haemangiomas
Arterial anomalies (esp carotid artery)
Cardiac defects (coarctation of aorta, septal defects)
Eye abnormalities (con cataracts, coloboma, optic atrophy)
Sternal clefts or pits, supraumbilical raphe (=ventral developmental defects)

Upper face lesions linked with brain, cerebrovascular and eye abnormalities
Lower face lesions linked with ventral developmental defects
Scan head if concerns; USS if less than 4 months, MRI with angiography if over (preferable)

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5
Q

What is Kasabach-Merritt phenomenon?

What tumours are associated?

A 
Rapidly enlarging vascular tumour in an infant w/ syndrome of;
Thrombocytopenia
Microangiopathic haemolytic anaemia
Consumptive coagulopathy
Tumour often trunk, neck, limb girdle
Mostly Kaposiform Haemangioendothelioma (KHE)
Can be Tufted angioma, rarely haemangiopericytoma
Can also be an internal vascular tumour
Self limiting - resolves over 1-6 years
Rx if life threatening complications
Pred
Vincristine
IFN alpha
surgery if small
transfusions if active bleeding
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6
Q

T/F

Infantile haemangioma affects 20% or more of infants by end of first year

A 
False
10% or more
Most common paediatric tumour 
Other names;
Capillary/cavernous haemangioma, Strawberry naevus
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7
Q

T/F

Infantile haemangioma is twice as common in girls

A

False

4 x more common in girls

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8
Q

T/F

Infantile haemangioma is more common in prem babies

A

True
esp if low birthweight
(30% of less than 1kg, 15% of

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9
Q

How to remember Parkes-Weber and Sturge-Weber syndromes?

A

PALSC

Parkes Arterial Limb Sturge Capillary

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10
Q

What is Adams-Oliver syndrome?

A

A capillary malformation syndrome
CAST (as in the cast of Oliver! – the musical)
Cutis marmorata telangiectatica congenita
Aplasia cutis (congenita)
Skull defects
Transverse limb abnormalities (syndactyly, polydactyly, brachydactyly)

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11
Q

What is Phakomatosis Pigmentovascularis?

A

Rare sporadic syndrome due to twin spotting
capillary malformation + pigmented naevi of various types
e.g. epidermal naevus, Mongolian blue spots, naevus aneamicus, naevus spillus
May have eye and CNS issues if overlying skin affected
‘syndromic form’ – above + one of; Sturge-Weber syndrome, Klipper-Trenaunay syndrome or naevus of Ota
NB dont confuse w phakomatosis pigmentokeratotica = v rare epidermal naevus syndrome

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12
Q

What is Beckwith-Wiedemann syndrome?

Exomphalos Macroglossia Gigantism syndrome

A

AR, WT2 gene mutation
If its Black + White I’d-LIKE a TORCH
Overproduction of Insulin-like Growth factor 2
NSD1 or KIP2 gene mutation, sporadic or AD
Tumours - hepatoblastoma, Wilms tumour, Neuroblastoma, Rhabdomyosarcoma
Overgrowth - Exomphalos, Macroglossia, Gigantism
Renal malformations
Centrofacial Capillary Malformation
Helical pits + Hypoglycaemia

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13
Q

What is Mafucci’s syndrome?

A

Presents in infancy
Cutaneous venous malformations + enchondromas
Deformed hands and feet
High risk of malignancy - enchondromas can transform into chondrosarcomas.
Also angiosarcomas, lymphangiosarcomas, fibrosarcomas, osteosarcomas
Also CALMs
F/u long term

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14
Q

What is Blue rubber bleb syndrome?

A

Sporadic or AD
Usually presents in adulthood
Multiple venous malformations of skin, gut, spinal cord and viscera - skin lesions are painful
No glomus cells

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15
Q

Which syndromes may be associated with non-epidermolytic verrucous epidermal naevus?

A 
Epidermal naevus syndromes
Proteus syndrome
McCune-Albright
Klippel-Trenauny
Phakomatosis pigmentokeratotica
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16
Q

T/F

Some cases of comedo naevus are due to mosaic form of Apert’s syndrome

A

True

FGFR2 mutation confirmed in at least one example
Skeletal malformations fit with a mosaic form of Apert’s syndrome (broad distal thumb, syndactyly, mid facial hypoplasia etc)

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17
Q

T/F

A linear mosaic form of Gorlin’s syndrome has been described

A

False
postulated but not described
Linear basal cell naevus is described
Cases w/ palmar pits or skeletal malformations are esp suggestive of Gorlin’s but PTCH gene mutation not identified

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18
Q

T/F

PTCH gene putations have been found in SCAP

A

True

also P16 mutations

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19
Q

T/F

an ILVEN is always present from birth

A

False
rarely seen at birth
75% present in first 5 years esp first 6 months
later onset reported

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20
Q

T/F

ILVEN are always itchy

A

True
can be severe
NB lichen striatus is asymptomatic

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21
Q

T/F

ILVEN may resolve completely

A

False
persist - 75% stable while 25% enlarge after presentation
NB lichen striatus often resolves spontaneously

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22
Q

What is a basal cell naevus?

A

A BCC clinically resembling a melanocytic naevus

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23
Q

What is ptychotropism?

A

predilection for body folds

e.g. CHILD naevus, many demratoses

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24
Q

T/F

Linear mosaic porokeratosis can be inherited from a parent with DSAP

A

True
by Happle 2 mosaicism;
mosaic mutation of the normal allele in an AD condition means that the linear area has homozygous gene for the disease so is markedly affected while the background heterozygous skin is relatively spared, but, may flare to active disease at a later date

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25
What is Phakomatosis pigmentokeratotica?
Very rare epidermal naevus syndrome | Sebaceous or verrucous epidermal naevus with speckled lentiginous naevus and extracutaneous defects
26
T/F | Becker's naevus is twice as common in males
False 5x more common in males but Becker naevus syndrome more commonin females
27
T/F | collagenomas are collagen naevi
True show accumulation of collagen which often appears altered and a sparsity of other dermal matrix components Shagreen patch of TSC is most well known example
28
T/F | The skin chnages in PXE are regarded as an elastic naevus
True
29
T/F | striated muscle hamartoma is more common than smooth muschle hamartoma
False smooth muscle much more common; 1:3000 birhs May demonstrate pseudo-Darier sign striated muscle hamartoma may be part of v rare Dalleman's syndrome
30
T/F | Vascular Tumours often appear after birth; Malformations usually present at birth
True
31
T/F | Vascular malformations often proliferate after birth; Vasc tumours don’t proliferate
False | other way around
32
T/F | Vascular Tumours may resolve spontaneously; Malformations don’t resolve
True
33
T/F | Vascular Tumours are rarely multiple; There are several malformations with multiple lesions
True But the vasc tumours w/ multiple lesions include; - Neonatal haemangiomatosis - benign/diffuse - Eruptive pseudoangiomatosis - Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) - Glomuvenous malformations Verrucous haemangioma can consist of several close lesions
34
T/F | All vascular malformations with proliferating endothelial cells express WT1 (Wilms tumour antigen)
False This is vascular tumours malformations dont proliferate and rarely express WT1
35
T/F | GLUT1 is only positive in infantile haemangiomas and not other vascular tumours
False | usually this is true and can be useful for diagnostic purposes but GLUT1 may be positive in verrucous haemangioma
36
What is the natural Hx of infantile haemangioma?
Lesion may be present at birth as small precursor within days to weeks starts to grow rapidly Proliferates for average 5 months Deeper lesions proliferate until 12 months of age Period of stability - varies - then begins to involute Involution may begin in first year or later – parts can be involuting while others are still proliferating Involution completed by; - 5 years in 50% - 7 years in 70% - 9 years in 90% But can continue for up to 10 years Lesions which start to involute late tend to regress incompletely
37
T/F | 90% of infantile haemangiomas are superficial
False at least 1 quarter mixed; up to 1 quarter deep 50-60% superficial – bright red while proliferating 25-35% mixed 10-25% deep – More blue colour
38
T/F | >50% of infantile haemangiomas occur on head and neck
True
39
How can IH be differentiated from other tumours or vascular malformations?
Biopsy and staining for GLUT1 is probably best way to tell quickly watching for the natural Hx of the lesion also helps serial USS can pick up subtle changes in appearance/flow NB CT and MRI cannot distinguish IH from other lesions
40
When should you look for visceral haemangiomas?
If 5 or more cutaneous haemangiomas should USS liver (+/- other sites) to look for visceral haemangiomas get scans done ASAP skin only = (Benign) Neonatal haemangiomatosis Visceral = Diffuse (disseminated/multifocal/miliary) neonatal haemangiomatosis (strictly only if 2 sites other than skin)
41
T/F | steroids are first line for diffuse neonatal hameangiomatosis
False propanolol now being used first line steroids second line IFNα 3rd line
42
What are diagnostic criteria for Diffuse neonatal haemangiomatosis?
Need al 3 of; - Onset in neonatal period - Involvement of 3 or more organs (skin, liver, GIT, lungs, brain most frequent) - No malignant transformation
43
What are complications of Diffuse neonatal haemangiomatosis? | what is prognosis?
``` Complications; - CCF about 40% (due to hepatic dx) - Haemorrhage about 10% - Multiorgan failure about 10% Scan abdo, chest, CNS, echo, FOBTs Mortality is about 75% if untreated or about 25% if treated ```
44
What are the complications of infantile hameangiomas?
``` Ulceration Scarring (residuum) – disfigurement Heart failure esp if hepatic Outer Ear/canal obstruction Airway obstruction Visual impairment ```
45
What are the mechanisms of action of beta blocker sin infantile haemangioma?
Increasing contractility of haemangioma pericytes May reduce catecholamine-induced angiogenesis May induce apoptosis of haemangioma-derived endothelial cells Inhibition of Renin-angiotensin system may play a role but unclear NB No effect on normal pericytes Do not seem to influence vasculogenesis (precursor cells turning into blood vessels)
46
Whats the dose of propanolol for IH? | Whats the dose of atenolol for IH?
Propanolol 2mg/kg/day in 3 divided doses - titrate to this over 2 weeks Atenolol 1mg/kg/day in a single daily dose - titrate to this over 1 week
47
What can be used for IH if beta blockers fail?
Prednisolone; 2-5mg/kg/day OD in morning for 1-3 months then taper slowly – study showed dose over 3mg/kg more effective but more risk of AEs Vincristine - severe AEs IFNα - risk permanent diplegia ILCS - ?radiology guidance laser (PDL or Nd:YAG) - little evidence but safer than second line systemic agents above Cryo - no good evidence compression banadaging - risk of heart failure embolization - liver mainly XRT - if v severe/life threatening surgery
48
T/F | there is no overlap between the congenital haemangiomas RICH and NICH
False Can be hard to distinguish RICH and NICH Some lesions appear to begin to involute then persist i.e. a so-called RICH stops involuting and turns into a NICH
49
T/F | congenital haemangiomas are WT1 positive and GLUT1 positive
False | WT1 positive and GLUT1 negaive
50
T/F | RICH usually involutes over many years like IH
False Rapidly involutes during first year (up to 14 months) of life Leaves dermal or subcuaneous atrophy
51
T/F | Glomuvenous malformation is a painful tumour
False Glums tumour is painful Glomuvenous malformation is not
52
What are the types of angiokeratomas?
``` My Ford Car Solely Plays CDs Angiokeratoma of Mibelli Angiokeratoma of Fordyce (scrotal angiokeratoma) Angiokeratoma Circumscriptum Solitary Papular angiokeratoma Angiokeratoma Corporis Diffusum ```
53
T/F | peripheral pallor is characteristic of IH
False | characteristic of congenital haemangiomas
54
T/F | Eruptive pseudoangiomatosis looks a lot like neonatal haemangiomatosis but the lesions occur later and resolve quickly
True both can look like many cherry angiomas Eruptive pseudoangiomatosis occurs from infancy up to about age 6 Often preceded by systemic symptoms of fever, URTI etc May be triggered by; echovirus, EBV, CMV, insect bites lesions resolve in 1-2 weeks
55
T/F | Benign vascular tumours are soft; aggressive tumours may be coarse
True
56
T/F | Benign vascular tumours are poorly demarcated; aggressive tumours are well demarcated
False | other way around
57
T/F | Benign vascular tumours do not infiltrate surrounding tissue; aggressive tumours may infiltrate
True
58
T/F | Benign vascular tumours are not associated w/ low plts/DIC; aggressive tumours may be
True | NB – rare cases of RICH can also be
59
T/F The term ‘hobnail haemangioendotheliomas’ cna be used to describe both Papillary intralymphatic angioendothelioma (PILA) and Retiform haemangioendothelioma (RHE)
True Both have prominent hobnail cells lining vascular structures PILA may be juvenile for of RHE
60
T/F Kaposis sarcoma is cuased by KS-associated strains of HHV8 whoch infect vascular endothelial cells causing ‘lymphatic reprogramming’
True
61
T/F | Angiosarcoma occurs on the legs of adults but on the head and neck of kids
False Mainly seen on head and neck of adults esp if sun damaged; M>F Multifocal in adults In kids is small, focal, often on leg and F>M Histo similar in adults and kids but >90% of kids ones are epithelioid variant
62
What is Klippel-Trenaunay syndrome?
Capillary malformation on a limb + limb soft tissue swelling (with or without boney hypertrophy) Due to Slow flow complex combined capillary venous malformation (CVM) or Capillary Venous-lymphatic malformation (CVLM) Cf- Parkes-Weber (AVM-high flow) May have; lymphangioma circumscriptum, angiokeratomas, pseudo-kaposi’s sarcoma, Venous varicosities common Mx Differentiate from; Parkes-Weber, CMTC, Proteus Duplex and Doppler USS MRI Regularly monitor leg length discrepancy preventing DVT/PE; treat venous insuffiency – compression stockings Refer; vascular surgeon; paeds ortho
63
Multiple infantile haemangiomas occur in 10-25% of cases
T

Medical dermatology Dan (41 decks)

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