MUPPITS revision (mainly obscure spot diagnosis and pattern recognition) Flashcards
What is this?
Epidermolysis bullosa (EB) is a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes. It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.
What is this?
Aplasia cutis (sometimes called ‘aplasia cutis congenita’) is a condition where a newborn child is missing skin from certain areas.
What is this?
Acrodermatitis enteropathica is a rare genetic disorder characterised by diarrhoea, an inflammatory rash around the mouth and/or anus, and hair loss.
Acrodermatitis enteropathica is due to malabsorption of zinc through the intestinal cells.
It is autosomal recessive
What is this?
Linear epidermal nevus/Lines of Blaschko
Epidermal naevi are due to an overgrowth of the epidermis. Lesions are present at birth (50%) or develop during childhood (mostly in the first year of life). The abnormality arises from a defect in the ectoderm. This is the outer layer of the embryo that gives rise to epidermis and neural tissue.
What is this?
Incontinentia pigmenti –> an dominant X-linked disease
ASSOIATED WITH TEETH, EYE AND CNS PROBLEMS
What is this?
Cutis marmorata telangiectatica congenita (CMTC) is a rare, deep purple, marble- or net-like birthmark. It is mostly cosmetic, and while it is present at birth, it fades considerably over a child’s first year.
What is this?
Ash lead macules –> associated with tuberous sclerosis.
Note the hypopigmented macules, in contrast to vitiligo where there is NO pigmentation
What is this?
Congenital melanocytic naevus
proliferations of benign melanocytes (pigment cells) that are present at birth or develop shortly after birth.
The risk of melanoma is mainly related to the size of the congenital melanocytic naevus. Small and medium sized congenital melanocytic naevi have a very small risk, well under 1%. Melanoma is more likely to develop in giant congenital naevi (lifetime estimates are 5-10%), particularly in lesions that lie across the spine or where there are multiple satellite lesions.
What is this?
What is the management?
Umbilical granuloma
Common condition resulting from low-grade infection of umbilical stump. Presents soon after cord separation as red, friable granulation tissue in region of umbilicus.
The key to treatment is early application of silver nitrate three times daily applied directly onto granulation tissue. Protect surrounding skin with Vaseline.
What is this? What is the management?
A sebaceous naevus is an uncommon type of birthmark. Present at birth, it is most often found on the scalp, but sebaceous naevi may also arise on the face, neck or forehead. It consists of overgrown epidermis (upper layers of the skin), sebaceous glands, hair follicles, apocrine glands and connective tissue. It is a type of epidermal naevus and is classified as a benign hair follicle tumour. A sebaceous naevus is also called an organoid naevus because it may include components of the entire skin.
Monitor and refer to derm. Probably no Tx required.
This is a 5 day old baby. What is the diagnosis and suggested management?
Congenital dermoid cyst
Common and easily resectable
What is this?
What is the prognosis and management?
Haemangioma –> occurs in 10% of babies, come up in first few weeks of life.
It grows grows rapidly in the first 6 months of life and then slows down. It looks like a strawberry, or if they arise deeper in the skin they can look like a blueish lump.
The vast majority regress completely by age 3, but about 10% may take until age 9-10 to regress.
They can ulcerate and become secondarily infected or bleed.
Because infantile haemangiomas are likely to improve or regress completely with time, there is no need for specific treatment in most cases. Treatment should be considered in the following circumstances.
- Very large and unsightly lesions
- Ulcerating haemangiomas (up to 5-25% of lesions)
- Lesions that impair vision, hearing, breathing or feeding
- If they fail to resolve by school age
What is this? What is it associated with?
Port Wine stain over the ophthalmic and maxillary branches of trigeminal nerve
Associated with Sturge-Weber syndrome –> a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.
Worry about epilepsy, paralysis and ID
Most cases of Sturge-Weber are not life-threatening. The patient’s quality of life depends on how well the symptoms (such as seizures) can be prevented or treated.
Patients will need to visit an ophthalmologist at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.
What is this USS showing?
The keyhole sign is an ultrasonograhic sign seen in boys with posterior urethral valves. It refers to the appearance of posterior urethra which is dilated, and associated thick walled distended bladder which on ultrasound may resemble a key hole.
What investigations would you order for a child with a UTI?
For infants and children aged 6 months and older with first-time UTI that responds to treatment, routine ultrasound is not recommended unless the infant or child has atypical UTI
- Children
- Older children do not require and ultrasound post first UTI, but should have a renal ultrasound for recurrent UTI.
If indicated, a DMSA scan 4–6 months following the acute infection should be used to detect renal parenchymal defects. This is a nuclear med scan that looks for a renal scar that may have been caused by the UTI.
Hydrocephalus
What are the two types/causes in paeds?
What is the key sign in a newborn?
What clinical sign would suggest that ICP is increasing?
What is the mainstay of treatment?
Types/causes
Congenital hydrocephalus – is present from birth and is associated with other birth defects such as spina bifida and Dandy-Walker syndrome.
Acquired hydrocephalus – can be triggered by tumours, infection or bleeding within the brain that blocks the movement or absorption of CSF.
Key signs
of hydrocephalus in a newborn –> increasing head circumference
Sundowning (downward deviation of the eyes) occurs later on in infancy, as fontanelles close its easier for ICP to increase causing neuro Sx.
Treatment
Mainstay of treatment is therapeutic LP and/or VP shunt
What are the three forms of neurofibromatosis?
How are they inherited?
What is the classical presentation of each?
NF1 – most common neurocutaneous syndrome
Autosomal dominant – chromosome 17, loss of functional NF1 gene, which is a tumour suppressor gene
- Lots of cutaneous neurofibromas
- cafe au lait spots (>6)
- Axillary freckling
- Lisch nodule in iris
NF2
Autosomal dominant – chromosome 22
Bilateral acoustic neuromas (think: NF2 for 2 ears!)
Schwannomatosis
Rare (1 in 40,000)
Similar to NF1/2 but get multiple schwannomas rather than neurofibromas
Tuberous Sclerosis
What is it?
How is it diagnosed?
What are the buzz words for clinical presentation?
What are the complications?
What is the management?
What is it?
- Autosomal dominant condition, 66% of cases due to de novo mutations
- Occurs in 1 in 5,000 - 10,000 births
- Disorder is primarily caused by development of benign hamartomas affecting brain, skin, heart, kidneys, eyes, lungs and heart
How is it diagnosed?
- Diagnosis is made clinically according to criteria (SLE/DSM style)
Buzz words/presentation
- Ash leaf spots (hypopigmented)
- Periungal fibromas
- Shagreen patches
- Facial angiofibromas
- Forehead fibrous plaques
Complications
- Epilepsy
- Infantile spasms are the most common presenting seizure
- Intellectual disability
- Autism
- Risk of invasive malignancy
Management
Symptomatic tx of seizures and ID
MRI every 1-3 years for monitoring for new brain lesions
Surgical treatment of brain lesions only undertaken if they are causing intractable epilepsy, hydrocephalus, haemorrhage, focal neurologic deficits etc.
Friedreich ataxia
What is it and how is it inherited?
What is the effect of Friedreich’s ataxia on cognition?
What are the symptoms and prognosis?
What is it?
Friedreich’s ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function.
The disease progresses until a wheelchair is required for mobility. Its incidence in the general population is roughly 1 in 50,000.
Symptoms
- Worsening ataxia
- Distal leg wasting
- Absent lower limb reflexes (preserved extensor plantar response)
- Pes cavus (high arch foot)
- Dysarthria
- Impairment of proprioception, vibration sense
- Often optic atrophy
- Associated with evolving kyphoscoliosis and cardiomyopathy that can cause cardiorespiratory compromise and death at 40-50 years.
- No effect on cognition
Tay-Sachs disease
What is it?
What is the effect on an infant/child?
What are the buzz words?
What is it?
Tay-Sachs disease (TSD) is an inherited (genetic) condition common in some Ashkenazi Jews and French-Canadians. However, it can affect people of any nationality. A mutated gene stops the body from producing an enzyme needed for proper brain functioning. This leads to paralysis and death, usually before the age of five.
Symptoms/effect
Symptoms first appear at around six months of age in a previously healthy baby. Over a short period of time, the baby stops moving and smiling, becomes paralysed and eventually dies. Most children with TSD die before their fifth birthday. There is no cure.
Buzz words
Cherry red spot
Hypotonia
Developmental regression in infancy
Death 2-5 years
Gaucher disease
What is it?
What are the key features?
An autosomal recessive disease in which glucocerebroside accumulates in cells and certain organs.
The disorder is characterized by:
- splenomegaly
- bone marrow suppression
- neurological degeneration
- seizures
Most common in Ashkenazi Jews
Niemann-Pick disease
What is it?
How does it typically first present and what are the clinical features?
What is the prognosis?
What is it?
Niemann-Pick Disease is one of a group of lysosomal storage diseases that affect metabolism and that are caused by genetic mutations.
Presentation/features
3-4 months feeding difficulties
FTT
Hepatosplenomegaly
Developmental delay
Hypotonia
Deterioration of hearing and vision
Cherry red spot in 50%,
Prognosis
Death by 4 years.
Spinal muscular atrophy
What is it?
What are the key clinical features/buzz words?
What is the prognosis
What is it?
Autosomal recessive condition –> degeneration of the anterior horn cells
Second most common neuromuscular disease after Duchenne’s.
There are four types, type 1 being the worst and most common.
Key clinical features
Severe onset in the first months of life
Severe hypotonia – “frog-like posture”
Characteristic “bright eyes” – reflects normal intellect
Areflexia
Weakness worse in legs than arms
Prognosis
Usually fatal by 2 yo from respiratory failure
Charcot-Marie Tooth disease
What is it?
What are the clinical features/buzz words?
What is it?
A genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body.
What are the clinical features?
Symptoms of CMT usually begin in early childhood or early adulthood, but can begin earlier. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a “stork leg” or “inverted champagne bottle” appearance.
Loss of touch sensation in the feet, ankles and legs, as well as in the hands, wrists and arms occur with various types of the disease.
High arched feet (pes cavus) or flat arched feet (pes planus) are classically associated with the disorder.
Eosinophillic oesophagitis
What is it? What conditions is it associated with?
What is the classic presentation?
What is the management?
Can you visualise what it looks like on endoscopy?
What is it ?
Eosinophilic oesophagitis is a recently recognised panoesophagitis in children, with diagnosis based on histological evidence of at least 15 eosinophils per high power field on oesophageal biopsies obtained at gastroscopy.
It is closely associated with food allergy (including IgE and non-IgE mediated) and other atopic conditions such as eczema, allergic rhinitis, asthma or family history of atopy.
Classic presentation
- Eosinophilic oesophagitis can present at any age with nonspecific gastrointestinal symptoms, including regurgitation, vomiting, food refusal or dysphagia.
- A classic infancy EO presentation includes irritability, feeding refusal and failure to thrive, which often overlaps with GORD presentation.
- On the other hand, food bolus impaction is the most common EO presentation in school aged children and adolescents. This presents as dysphagia, or a sensation of choking/food getting stuck (often with meat)
Management
Management of suspected EO requires referral to a gastroentologist for diagnosis by endoscopy. Treatment usually consists of a trial of food allergen elimination (ie. empirically or based on allergy testing – with referral to an allergist) or swallowed inhaled corticosteroids.
You are treating a 7yo child in ED for severe asthma. The nurse assisting you offers to insert an IV line for IV steroids, what do you tell her?
There is no evidence that IV steroids are any more effective than PO steroids for asthma exacerbations.
Their role is just for kids who can’t tolerate PO meds (like if they’re vomiting).
What is this?
What would you say to parents of a child with this condition to explain what it is?
What is the management?
Plagiocephaly
is the most common craniofacial problem today.
Explain to parents
It is common for a newborn baby to have an unusually shaped head. This can be caused by the position of the baby in the uterus during pregnancy, or can happen during birth. Your baby’s head should go back to a normal shape within about six weeks after birth. Sometimes a baby’s head does not return to a normal shape and the baby may have developed a flattened spot at the back or side of the head. This condition is known as deformational plagiocephaly.
Plagiocephaly does not affect the development of a baby’s brain, but if not treated it may change their physical appearance by causing uneven growth of their face and head.
Management
Many children with deformational plagiocephaly do not need any treatment at all, because the condition can improve naturally as the child grows and begins to sit up. For children where treatment is necessary, it is important to see a specialist (plastic surgeon) between four and eight months of age. This is because the greatest amount of correction will occur before 12 months of age.
Where needed, treatment may involve helmets or correctional positioning.
When is bronchiolitis most severe?
Bronchiolitis is always worst on day 3, counting day 1 as the first day of respiratory distress (not day 1 of the coryza)
Describe the Ann Arbour staging criteria…
Describe the structure of the heart (and the pattern of blood flow) in tricuspid atresia…
Tricuspid atresia –> Absence of tricuspid valve AND of functioning RV.
Systemic venous return is therefore shunted from the RA through the FO/ASD into the LA where it mixes with pulmonary venous return, resulting in semi-oxygenated blood output to the Aorta.
If a VSD is present there will be a small hypoplastic RV and blood will enter the pulmonary arteries through this. (This is pictured)
If there is no VSD, the RV will be completely hypoplastic, pulmonary atresia will be present, and the pulmonary arterial circulation will be completely dependant on shunting of blood from the aorta to the pulmonary circulation via the DA.
The parents of an 18month year old child bring her to you to review her feet, which they think look abnormal. What do you tell them is the problem? When should they worry?
This is called flat feet (pes planus)
It is very common from age 1 to 2
As long as the arch comes back when they’re when on tiptoes it’s totally fine
Orthotics do little, no management required
When to worry?
Most children develop an arch in standing by around age six. However, about one in five children never develop an arch and that CAN indicate Achilles tendon contracture or inflammatory arthtropathy –> should be referred.
A 2 year old’s parents bring him for review because they think he has “bow legs” (pictured). What do you say?
This is called Bow legs (genu varum)
Self resolves by age 3
Just make 100% sure it’s not rickets
The parents of a 4 year old bring their child to you concerned about her “knock knees”. What do you say? What management is required.
Knock knees are common in children between the ages of three and five.
In most children the legs gradually straighten with growth, and are usually in a normal position by the time they are eight years old.
Because bow legs and knock knees usually correct naturally, special shoes, braces or exercises are not recommended.
If you are concerned about the shape of your child’s legs, it may be helpful to take a photograph of your child every six months to show your doctor. Photograph your child standing with their knees facing forward.
A 15 year old boy who is training to be a professional football player presents with persistent knee pain localised pain over femoral condyles. What is the diagnosis and management?
Osteochondritis dissecans
(separation of bone and cartilage from medial femoral condyle following avascular necrosis)
If complete separation of articular fragment loose body formation will give symptoms of knee locking or giving way
Spontaneous healing is usual unless there is an unstable fragment, and treatment revolves around rest and immobilisation for up to a year
A 13 year old girl has pain when standing up from sitting, as well as when walking up stairs. She has no other symptoms. What is the diagnosis and management?
Chondromalacia patellae = softening of patella articular cartilage
often affects adolescent females
Rx with rest and PT for quad strengthening
hockey-stick palmar crease = ???
Fetal alcohol syndrome
What are the main features of Williams Syndrome?
- “Elfin” facies (a.k.a. “pixie-like”)
- Cognitive profile consisting of impaired cognition and development accompanied by a friendly, social personality
- Love for and skill at music
- hyperacusis – extreme sensitivity to sound, which may include being startled by ordinary noise levels
- Supravalvular aortic and/or pulmonary stenosis
- Hypertension
- Short stature
- Endocrine abnormalities including hypercalcemia, diabetes mellitus, and subclinical hypothyroidism
- Genitourinary abnormalities
- MANY MANY MANY others
Diagnosis?
Prognosis?
Edwards syndrome –> Trisomy 18
What is the genetic cause of Patau syndrome?
What are the main/buzz word features?
What is the prognosis?
Trisomy 13
Structural defects of brain and scalp defects/Cleft lip and palate
8-10% survive beyond 1 year with severe learning disabilities, most likely due to mosaicism or partial trisomy 13
What’s the diagnosis?
What are the clinical features?
Fragile X (X linked means more common in men)
Facial dysmorphism
Macrocephaly/High forehead/Long face
Big ears
Large testes (post-pubertal)
Cognitive
Intellectual disability
Autistim
What’s the diagnosis?
What are the clinical features of this condition?
What is the prognosis?
Pierre-Robin syndrome
Micrognathia/retrognathia –> resp problems at birth, feeding problems, FTT, OSA, cleft palate
Prognosis is okay once the anatomical problems are corrected
