Stuff Flashcards
Typical presentation of porphyria cutanea tarda?
Fragility and blisters
Other features: hyperpigmentation, hypertrichosis, solar urticaria, morphoea
Investigation for porphyria cutanea tarda?
Woods lamp
Causes of porphyria cutanea tarda?
Alcohol, viral hepatitis, oestrogens, haemochromatosis
Defect in uroporphyrinogen decarboxylase causes what?
Porphyria cutanea tarda
Cancer you might get if you have PCT?
Hepatoma (hepatocellular carcinoma)
Defect in ferrochelatase causes which condition?
Erythropoietic protoporphyria
Investigations for erythropoietic protoporphyria
Quantitative RBC porphyrins Fluorocytes (patient, relatives) Transaminases [Hb], red cell indices (Biliary tract USS) (Phototesting)
Management of EPP
6 monthly LFTs and RBC porphyrins
Visible light photoprotection measures (particular need for caution if surgery needed)
Prophylactic TL-01 phototherapy
Anti-oxidants (beta-carotene, cysteine, high dose vitamin C)
(Avoid iron)
Incipient liver failure: oral charcoal; cholestyramine; ? ALA synthase inhibition
Liver failure: transplant liver; ? Bone marrow
Acute intermittent porphyria differentials?
Acute abdomen
Mononeuritis multiplex
Guillain-Barré syndrome
Psychoses
(female) patient with abdominal pain +/- neurological +/- psychiatric +/- hyponatremia
Acute intermittent porphyria
Fluid and electrolyte balance
Sweat glands
Epidermis cells
Mainly squamous
Stratified keratinising
Where are the melanocytes found?
Dermo-epidermal junction
Ratio of melanocytes : basal cells
1:10
Which layer of epidermis are melanocytes found in?
The basal layer
Where are langerhans cells found?
Mid - upper epidermis
Dermis
The dermis: a thicker inner portion. This is the connective tissue layer of skin. It is important for sensation, protection and thermoregulation. It contains nerves, the blood supply, fibroblasts, etc, as well as sweat glands, which open out onto the surface of the skin, and in some regions, hair. The apical layers of the dermis are folded, to form dermal papillae, which are particularly prominent in thick skin
Acanthosis
Thickening of epithelium
Parakeratosis
Persistence of nuclei in the keratin layer
Hyperkeratosis
Increased thickening of keratin layer
Papillomatosis
Irregular epithelial thickening
Psoriasiform
Elongation of rete ridges e.g. psoriasis
Munro micro abcess
Associated with psoriasis
-an abcess (collection of neutrophils) in the stratum corneum
Which investigation should all patients presenting with erythema nodosum be given?
x-ray for chest involvement
Anti-endomysial antibodies
Dermatitis herpetiformis
Areas affected by dermatitis herpetiformis?
Elbows, knees, back and buttocks
Side effect of nifedipine?
Gingival hyperplasia
People with polymyalgia rheumatica may also develop what?
Giant cell arteritis
Lattisimus dorsi?
Adducts shoulder
Extends shoulder
Internally rotates shoulder
SLE biologics
Anti-CD20 (rituximab)
Anti-Blys (Belimumab)
Serum and synovial keratin sulphate
Levels of serum and synovial keratin sulphate increase with age and in OA
SLE is which kind of hypersensitivity?
Type III hypersensitivty
Nucleolar ANA
Scleroderma
Speckled antibody
SLE and sjogrens
What would you find in a type III hypersensitivity biopsy?
Immune complexes
Neutrophils and macrophages
Products of complement activation
Rheumatoid arthritis type of hypersensitivity
Type IV (delayed) Characterised by infiltration of synovium with CD4+ cells
TNF AND IL-1 PLAY CRITICAL ROLE IN WHICH DISEASE?!
RA
-Important mediators of joint damage!!
What is rheumatoid factor?
antibody directed against the Fc region of IgG
Major indications for Rheumatoid factor testing?
Good indicator of PROGNOSIS of RA (more severe etc, associated with extra-articular manifestations e.g. nodules and vasculitis)
May be helpful in diagnosis of Sjogrens and cryoglobulinemia
Best predictor of aggressive disease course in RA?
Anti-CCP
Systemic inflammatory response syndrome?
HB > 90
RR > 20
WBC >12,000 or <4.3 kPa
Salmonella may cause osteomyelitis in which specific set of patients?
Sickle cell anemia patients
Poorly controlled diabetics, immunocompromised and IV drug users are particularly at risk of osteomyelitis where?
In the spine!!
Risks of HRT
Endometrial and breast cancer
DVT
How to diagnose stress fracture
Ultrasound or bone scintigraphy
They are common in the pelvis
Show first radiological signs of healing 4-8 weeks post fracture
Galeazzi fracture?
Fracture of the distal third of the radius and dislocation of the ulna
Fracture just above the elbow with displacement of the distal fragment
Supracondylar fracture
Supracondylar fracture risks
Median nerve
Brachial artery
Compartment syndrome
SUFE associated with which endocrine disorder?
Hypothyroidism
Osgood schlatters disease
Osteochondritis of the tibial tuberosity
- Classically affects teenagers and those who enjoy sport
- local swelling or tender lump over tibial tuberosity
- symptoms exacerbated by exercise and relieved by rest
Pink/blue sweaty hand that is tender to touch and stiff
Injury occurred some weeks ago
Complex regional pain syndrome
Swelling an calf tenderness following THR?
Deep vein thrombosis
Chondromalacia
Damage to the cartilage at the back of the knee cap
-More commonly found in girls who exercise regularly
What commonly precedes tranient synovitis of the hip?
Upper respiratory tract infection
Where would you develop a chondroma?
Hands and feet
Distinct clinical picture of osteoid osteoma?
Worse at night, dull pain, characteristically relieved by NSAIDs or aspirin
Enchondroma histology?
Small round pyknotic nuclei, no atypia
Classical RADIOLOGICAL image of osteoid osteoma?
Radiolucent niddus surrounded by reactive sclerosis in cortex of bone
Chicken wire calcification
Chondroblastoma
Chondroblastoma histology
Closely packed polygonal cells plus areas of immature chondroid
-Mitotic activity low
Treatment for chondroblastoma?
Biopsy and curretage plus adjuvant liquid nitrogen
Multi-nucleated cells in a sea of round to oval cells
Giant cell tumour
Irregular spicules of mineralised bone and osteoid surrounded by osteoblasts
Vascular stroma with pleomorphic SPINDLE CELLS
Osteoid and woven bone are seen
Osteoblastoma
Lobules and fibrous septa
Chorda
Lobules and fibrous septa
The malignant cells have eosinophilic cytoplasm and vacuoles of mucus push the nuclei to the side
Separation of nodules by fibrous bands would be highly suggestive of what?
Malignancy
Malignant nodules infiltrate between the lamellar bone obliterating the marrow. Separation of the nodules by fibrous bands would be highly suggestive of malignancy
Peripheral primitive neuroectodermal tumour
Ewings sarcoma
Treatment for Ewings Sarcoma
Surgery
Radiation therapy
Chemotherapy with vincristine, dactomycin and cyclophosphamide
Post-operative adjuvant chemotherapy
Ideal pH?
7.35-7.45
Which organ excretes/resorbs bicarbonate?
Kidneys
Tumour derived from remnants of notocord?
Chordoma
Chondrosarcoma shows pure differentiation of which type of cartilage?
Chondrosarcoma shows pure differentiation of hyaline cartilage
PNET
Peripheral neuroectodermal tumour
Ewing’s sarcoma
Multiple myeloma
Malignant proliferation of plasma cells in bone marrow
Occurs in old age
Often causes renal failure
Results in bone destruction of the axial skeleton
Chicken wire calcification
Chondroblastoma
Dermatomyositis may lead to which type of cancers?
Breast, ovarian, stomach, lung, bladder, colon
Malignancy risk related to dermatomyositis is highest in which group of people?
Men over 45
Anti-Jo-1 antibodies
Myositis
Indicate poor prognosis with interstitial lung disease
The lung disease occurs in about 1/3rd
Drug treatment for polymyositis/dermatomyositis
Early initiation of therapy is essential.[8]
Steroids are the most important drugs. In mild disease, topical steroids may suffice. In more severe disease, high doses of systemic steroids are used and tapered off. Improvement is usually apparent by the second or third month. The usual precautions must be exercised when giving high doses of steroids for long periods.
If steroids fail then immunosuppressive drugs such as azathioprine can be used. As an alternative, cyclophosphamide is usually better than methotrexate.
Intravenous immunoglobulin is appropriate in patients with resistant dermatomyositis or aggressive disease
Inclusion myositis histology
Inflammatory infiltrate.
Cytoplasmic vacuolation.
Characteristic tubo-filamentous inclusions within the cytoplasm and nuclei of muscle cells.
Papular eruption characterised by its violacous colour and polygonal shape, sometimes with a fine scale
It is most often found on the flexor surfaces of the upper extremities, genitalia and mucous membranes!!
Lichen planus
Somebody has primary biliary psoriasis, what skin condition might they have?
Lichen planus
Drugs which could cause eruptions similar to lichen planus?
Thiazides, anti-malarials and gold
When does lichen planus tend to spontaneously resolve?
6-12 months
Ring fibres in muscle are a sign of what?
Dystrophic change
Also: fatty replacement, regeneration, segmental necrosis, increased central nuclei, myocyte hypertrophy and splitting, variability in muscle fibre size and endomysial fibrosis
Myotonic dystrophy
Face, respiratory, limbs
Dominant
Duchenne and Becker muscular dystrophy
X-linked recessive
Limb girdle and scapulohumeral muscular dystrophy
autosomal recessive
Fascisuloscapulohumeral, oculopharyngeal and myotonic dystrophy method of inheritance?
Dominant
Pseudohypertrophy of calves
DMD
Myotonic dystrophy
Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw.
Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility). The features of this disorder often develop during a person’s twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family.
There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves the muscles of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes.
Atrophy of type 1 fibres?
Myotonic dystrophy
Chromosomes involved in myotonic dystrophy?
Ch3 and Ch19
Parts of the body affected in myotonic dystrophy?
Adolescent: face and limbs
Later: respiratory
Upper body erythema, swelling of eyelids with purple discolouration
(plus polymyositis)
Dermatomyositis
Target lesions
Erythema multiforme (doesn't affect mucous membranes)
Progressive degeneration in anterior horn cells
Motor neuron disease
Chromosome involved in spinal muscular atrophy?
Chromosome 5
-autosomal recessive
What might cause myoglobulinuria?
Rhabdomyolysis
What does rhabdomyolysis cause?
Hyperkalaemia Myoglobulinuria Necrosis and shock OUTCOME; Acute Renal Failure (breakdown products of skeletal muscle and myoglobin are harmful to the kidneys)
Hypovolaemia & hyperkalaemia
Metabolic acidosis
Disseminated intravascular coagulation
SLE hypersensitivity?
Visceral lesions – mediated by Type III hypersensitivity
Haematological effects – mediated by Type II hypersensitivity
Coombs test
Checks for antibodies that affect red blood cells
PAN
§fever, weight loss, abdominal pain, and polyneuropathy revealed areas of focal inflammatory exudations that gave rise to palpable nodules along the course of medium-sized arteries
Temporal artery biopsy; inflammation,+/- giant cells, fragmentation of internal elastic lamina
Giant cell arteritis
Cells seen in Rosacea inflammation?
Plasma
Rhinophyma?
Thickening of skin, e.g. in rosacea
Common to all variants of pemphigus is the process of
Acantholysis :)
=lysis of inracellular adhesion sites
Papillary dermal microabscesses
Dermatitis herpetiformis!!
Follicular demodex mite is often seen in which condition?
Rosacea
Patchy inflammation with plasma cells?
Perifollicular granulomas
Rosacea
Pemphigus vulgaris, bullous pemphigoid and dermatitis herpetiformis, IgA or IgG?
Pemphigus vulgaris and bullous pemphigoid = IgG
Dermatitis herpetiformis = IgA
Elongation of rete ridges
Psoriasis
Munro microabscesses
Psoriasis
What is the epidermal BM made of?
Laminin and collagen IV
Which part of the dermis contains appendage structures-sweat glands, pilosebaceous units?
The reticular dermis
Where are melanocytes found in the dermis?
In the basal layer
Epidermis
Stratified squamous keratinising epithelium
Key hallmarks of cancer (photocarcinogenesis lecture)
- Insensitivity to growth signals
- Insensitivity to anti-growth signals
- Evade death (apoptosis)
- Limitless potential to divide
- Angiogenesis
- Invasion and metastasis
Sun exposure length and skin cancer type
Intermittent exposure: BCC & melanoma
Chronic exposure: SCC
UV signature mutation
Cytosine to thymine
Which type of UV causes initiation mutations in cancer?
UVB –> initiation mutation
UVB/UVA –> promotion
MCC
Merkel skin cancer
Syndromes predisposing to BCC?
XP
Basal cell nevus syndrome (Gorlin Syndrome)
Drugs associated with photocarcinogenesis?
Psoralen Voricanzole Azathioprine Vemurfanib Immunosuppressants Photosensitising drugs Topicals
Inflammatory mediators up regulated in photocarcinogenesis
IL-10 and PGE2
- decrease langerhans cells
- increase oxidative stress
- interact with endogenous compounds
Papillomatosis
Irregular epithelial thickening
Acanthosis
Increased thickening of epidermis
Contact allergic dermatitis
Delayed, type 4
Drug related dermatitis
Type1/4 hypersensitivity
spongiotic dermatitis and eosinophils
Immunopathology of contact dermatitis
Langerhans cell in epidermis processes antigen
( immunogenicity).
Processed antigen is then presented to Th cells in dermis
Sensitised Th cells migrate into lymphatics and then to regional nodes where antigen presentation is amplified
What type of dermatitis is nappy rash?
Irritant contact dermatitis
Sparing of flexures
Which other allergic conditions is eczema associated with?
Allergic rhinitis
Asthma
Food allergy
Chronic changes in eczema
Lichenification
Excoriation
Secondary infection
Monomorphic punched out lesions??
Herpes simplex virus
Eczema herpeticum
Diagnostic criteria for Eczema
Itching plus 3 or more: Visible flexural rash* History of flexural rash* Personal history of atopy (or first degree relative if under 4 yo) Generally dry skin Onset before age 2 years
*cheeks and extensor surfaces in infants
Treatment of Eczema
Plenty of emollients Avoid irritants including shower gels and soaps Topical steroids Treat infection Phototherapy – mainly UVB Systemic immunosuppressants (Biologic agents)
Chronic Actinic Dermatitis
Photosensitive dermatitis
Stasis eczema is secondary to what?
hydrostatic pressure
oedema
red cell extravasation
Pompholyx eczema
Spongiotic vesicles
-tiny blisters on hands and feet
Upper cervical spine
C1 and C2
Atlanto-occipital joint
Flexion/extension
Lateral extension
Ligamentum flavum
Link vertebral laminae
Example where one column of the spine would be fractured?
Osteoporotic wedge fracture
Intermediate muscle of the spine?
Serratus posterior (spinous processes –> ribs)
Dorsal scapula nerve
C3/C4
innervates rhomboid major and rhomboid minor
Transverse process of C1 –> superior angle of scapula
Levator scapularis
Innervation: branches of C4/C5
What forms the intervertebral foramina?
Notches in the pedicles
Biceps tendonitis
Usually a vague anterior shoulder pain which has an aching quality
Shoulder girdle
Clavicel and scapula
Where does a SLAP tear occur?
A SLAP tear occurs where the biceps tendon attaches to the labrum
TFCC
triangular fibrocartilage complex
Which nerve supplies the thenar muscles?
The median nerve
What innervates the abductor digiti minimi muscle?
The ulnar nerve
Solution to eyes immune system or lack thereof
Blink reflex
Physical and chemical properties of eye surface.
Limit exposure/size
Lysozyme
Gram negative and fungi
Secretory IgA
Prevents attachment
Lactoferrin and transferrin
Gram positive
Tear lipids
Anti-bacterial to cell membranes
Cornea
Clear dome over the iris
Which is the only part of the eye with lymphatic drainage?
The conjunctiva
- Also has dendritic cells
- Mucosa associated lymphoid tissue
- commensal bacteria
Choroid
Vascular layer of the eye containing connective tissue Lies between the retina and sclera -Blood ocular layer -Relative lack of APC's -down regulated immune system
Hypersensitivity reaction
Immune response that results in bystander damage to the self
Fab
Antigen specific region
Optical Cicatricial Pemphigoid type of hypersensitivIty?
Type II
Autoimmune corneal melting type of hypersensitivity?
Type III
Corneal graft rejection type of hypersensitivity?
Type IV
Where does the subarachnoid space end?
Ends at the level of S2
