Naevi & Dev defects Dan Flashcards
T/F
Cutaneous anomalies due to chimerisim in humans are always pigmentary
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
What is epidermal naevus syndrome?
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
What are the features of lumbosacral infantile hameangioma? What is management?
(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
What is PHACES syndrome?
Who gets it?
How do you procede?
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)
What is Kasabach-Merritt phenomenon?
What tumours are associated?
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
T/F
Infantile haemangioma affects 20% or more of infants by end of first year
False 10% or more Most common paediatric tumour Other names; Capillary/cavernous haemangioma, Strawberry naevus
T/F
Infantile haemangioma is twice as common in girls
False
4 x more common in girls
T/F
Infantile haemangioma is more common in prem babies
True
esp if low birthweight
(30% of less than 1kg, 15% of
How to remember Parkes-Weber and Sturge-Weber syndromes?
PALSC
Parkes Arterial Limb Sturge Capillary
What is Adams-Oliver syndrome?
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)
What is Phakomatosis Pigmentovascularis?
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
What is Beckwith-Wiedemann syndrome?
Exomphalos Macroglossia Gigantism syndrome
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
What is Mafucci’s syndrome?
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
What is Blue rubber bleb syndrome?
Sporadic or AD
Usually presents in adulthood
Multiple venous malformations of skin, gut, spinal cord and viscera - skin lesions are painful
No glomus cells
Which syndromes may be associated with non-epidermolytic verrucous epidermal naevus?
Epidermal naevus syndromes Proteus syndrome McCune-Albright Klippel-Trenauny Phakomatosis pigmentokeratotica
T/F
Some cases of comedo naevus are due to mosaic form of Apert’s syndrome
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)
T/F
A linear mosaic form of Gorlin’s syndrome has been described
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
T/F
PTCH gene putations have been found in SCAP
True
also P16 mutations
T/F
an ILVEN is always present from birth
False
rarely seen at birth
75% present in first 5 years esp first 6 months
later onset reported
T/F
ILVEN are always itchy
True
can be severe
NB lichen striatus is asymptomatic
T/F
ILVEN may resolve completely
False
persist - 75% stable while 25% enlarge after presentation
NB lichen striatus often resolves spontaneously
What is a basal cell naevus?
A BCC clinically resembling a melanocytic naevus
What is ptychotropism?
predilection for body folds
e.g. CHILD naevus, many demratoses
T/F
Linear mosaic porokeratosis can be inherited from a parent with DSAP
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
What is Phakomatosis pigmentokeratotica?
Very rare epidermal naevus syndrome
Sebaceous or verrucous epidermal naevus with speckled lentiginous naevus and extracutaneous defects