Skin and Systemic Disease Flashcards
1
Q
How can the skin be linked with systemic disease?
A
- When a systemic disease has classical skin findings.
- When a specific dermatological diagnosis can involve other organs e.g. vasculitis.
- When skin signs may be initial presentation of an internal malignancy.
2
Q
What does a vasculitis screen include?
A
- Clinical hx and examination
- BP
- FBD
- U&E
- LFTs
- ANA, ENA, ANCA
- Urinalysis and urine albumin creatinine ratio
- Skin biopsy +/- immunofluorescence
3
Q
What are the causes of vasculitis?
A
- Infections
- Connective tissue diseases
- SLE
- Systemic sclerosis
- Dermatomyositis
- Wegener’s, PAN, Churg-Strauss syndrome
- Malignancy
- Haematologic
- Drugs
- Antibiotics
- Antihypertensives
- Idiopathic
- Henoch-Schonlein Purpura
4
Q
What is the importance of the size of the vessel involved in vasculitis?
A
- Consider the size of the vessel involved.
- SMALL VESSEL VASCULITIS
- Arterioles, venules and capillaries
- Palpable purpura and plaques
- MEDIUM VESSEL VASCULITIS
- More often associated with systemic vasculitis
- PAN, Churg-Strauss, Wegner’s
- LARGE VESSEL VASCULITIS
- Takayasu arteritis
- Temporal (giant cell) arteritis
5
Q
What is sarcoidosis?
A
- Multisystem granulomatous disorder
- Unknown aetiology
- Characterised by non-caseating granulomas
- May present with non-specific symptoms
- Dry cough
6
Q
What are the treatment options for sarcoidosis?
A
- Topical or oral steroids
- Immunosuppression such as hydroxychloroquine
7
Q
Describe erythema nodosum.
A
- Acute reactive inflammation of subcutis (panniculitis).
- Hot tender nodules
- Fever, arthralgia and malaise
- Generally self-limiting
8
Q
What are the causes of erythema nodosum?
A
- Infection
- Sarcoidosis
- IBD
- Malignancy
- Pregnancy
- Behcet’s syndrome
- Drugs
- OCP
- Tetracyclines
- Sulphur-based drugs
- Bromides and iodides
9
Q
What are the appropriate investigations for erythema nodosum?
A
- Full clinical examination
- Throat swab, ASOT, anti-ds-DNA antibodies
- CXR
- ACE level
- FBS and blood film
- Supportive treatment
10
Q
What are the dermatological manifestations of hypothyroidism?
A
- Pretibial myxoedema
- Dry skin
- Can lead to pruritis
- Brittle hair
- Loss of lateral 1/3 of eyebrow
11
Q
Describe pyoderma gangrenosum.
A
- Ulceration which may start at site of trauma.
- Purplish edge.
- Enlarging, with undermined edge.
- Association with IBD, RA, myeloid blood dyscrasias.
12
Q
How should pyoderma gangrenosum be investigated?
What are the treatment options?
A
- Swab to exclude infection
- Biopsy may be requires
- Routine bloods
- Should have non-surgical treatment as disease would be likely to extend to new margins
- Topical steroids
- Systemic steroids and immunosuppression
13
Q
Describe dermatitis herpetiformis.
How is it treated?
A
- Pruritic vesicular eruption on elbows / buttocks
- Association with coeliac disease
- May pre-date bowel symptoms
- Treat with gluten-free diet +/- Dapsone
14
Q
Clinical case:
- 67 year old female
- Referred to tumour linic - enlarging brown macule above L eyebrow.
- Lethargy
- Recent admissions - generally unwell
- Weight loss and nausea
- Recently had to return from Tenerife after only 4 days
- Gingival melanin
What investigations would you do and what would you expect to find?
A
- Short synacthen test
- Admitted as an emergency (Addisonian crisis)
- Addison’s disease confirmed
15
Q
Describe psoriasis.
What are the types of treatment?
A
- Erythematous scaly plaques
- Often chronic
- May have genetic predisposition
- Topical / systemic treatment
- Associated risk factors
16
Q
What are the shared common components of psoriasis and metabolic syndrome?
A
- Chronic inflammation
- TH1 and TH17 response
- Endothelial cell dysfunction
- Angiogenesis
- Metabolic process
- Oxidative stress
- Common genes
17
Q
When might skin signs be an initial presentation of systemic malignancy?
A
- As a result of direct spread / metastases
- Paraneoplastic phenomena
- Genetic syndromes with increased risk of malignancy
- Picture: metastatic breast cancer
18
Q
What does this depict?
Describe it.
A
- Erythema gyratum repens
- Rash may predate malignancy
- Pruritis
- Rapid spreading of lesions - wood grain pattern
- Lung cancer most common
- 20% not associated with malignancy
19
Q
What does this depict?
Describe it.
A
- Sweet’s syndrome
- Acute neutrophilic dermatosis
- Tumid plaques
- Association with haematological malignancy
- Fever and neutrophilia
20
Q
What does this depict?
Describe it.
A
- Dermatomyositis
- Gottren’s papules
- Violaceous eyelids
- Muscle ache
- Need to screen for underlying malignancy in adult form
- Potential link with malignancy in >40s
- Creatine kinase
- Biopsy
- MRI muscle / EMG
- Specific antibodies
- CXR
- CT scan
21
Q
What does this depict?
What are the causes?
A
- Acanthosis nigricans
- Caused by:
- Insulin resistance
- Adenocarcinoma in older patients
- PCOS
- Familial
22
Q
What do these depict?
What is it associated with?
A
- Paraneoplastic pemphigus
- Associated with haematological malignancy and thymoma
23
Q
Clinical case:
- 38 year old female.
- Several months’ hx of extremely itchy rash, particularly on lower legs.
- No response to topical or steroid or emollient.
- GP referral.
- Findings on examination:
- Excoriations
- Palpable supraclavicular node
- Abnormal CXR
What could the diagnosis be?
A
Hodgkin’s lymphoma
- Good response to treatment
- Pruritus resolved
24
Q
What are the causes of generalised pruritus?
A
-
Haematological
- Iron deficiency anaemia
- Myeloproliferative disorders
- Myeloma and lymphoma
-
Renal disorders
- Uraemia
-
Liver disorders
- Cholestasis
-
Endocrine abnormalities
- Hypo and hyperthyroidism
25
26
Describe the examination, investigation and treatment of pruritus.
27
Describe Birt-Hogg-Dube syndrome.
* Autosomal dominant
* Risk of colon and renal cancer
* Risk of spontaneous pneumothorax
* Benign tumours on the head, face and upper body
* Fibrofolliculoma
* Trichodiscoma
* Achondron
* Mutation on chromosome 17
28
What are the investigations for Birt-Hogg-Dube syndrome?
* Skin biopsy
* Renal USS
* CT abdomen
* CXR
* ?Colonoscopy
* Regular screening
29
What is Gardner syndrome?
Describe it.
* Variant of 'familial adenomatous polyposis'
* Polyps, multiple ostemoas, skin and soft tissue tumours
* Polyps form at puberty - progression to malignancy
* Average age of diagnosis - 25 years
* Mutation on APC gene (chromosome 5q22)
* Tumour suppressor gene
* Autosomal dominant inheritance
30
What are the cutaneous and non-cutaneous manifestations of Gardner syndrome?
* **Cutaneous**
* ****Epidermoid cysts (at young age)
* Usually asymptomatic but may be itchy
* ?hybrid features
* **Non-cutaneous**
* ****GI polyps
* Osteomas
* Dental abnormalities - caries
* Multifocal pigmented lesions of fundus of eye
31
Describe the diagnosis of Gardner syndrome.
* \>100 colorectal polyps OR \<100 and family member affected.
* Soft tissue tumours (epidermoid cysts, fibromas and desmoid tumours).
* APC mutation.
* *Need bone X-rays (and mandible), eye examination, colonoscopy every 1-2 years.*
32
Describe the characteristics or Gorlin syndrome (basal cell naevus syndrome).
* Autosomal dominant inheritance
* Abnormal PTCH 1 gene on chromosome 9
* Affects 1 in 50-100,000
* Multiple early onset basal cell carcinomas
* Odontogenic jaw cysts
* Broad forehead
* Palmar pits
* Anomalies in ribs
* Calcified falx cerebri
33
When does Gorlin syndrome present?
* Uncommon first presentation can be medulloblastoma in early childhood.
* Jaw cysts may develop in 20s.
* BCCs in 30s/40s.
* Regular surveillance recommended.
* Some may be amenable to non-surgical treatment.
34
What is Muir-Torre syndrome?
Sebaceous adenomas and carcinomas associated with colorectal cancer.
35
What is Lynch syndrome?
* Hereditary non-polyposis colorectal cancer.
* Autosomal dominant.
* Also linked with endometrial and ovarian cancer.
* Sebaceous adenomas, epitheliomas and carcinomas.
36
What is Peutz-Jeghers Syndrome?
* GI polyps plus pigmentation of mucous membranes.
* Hamartomas
* 15x increased risk of internal malignancy.
* AD or spontaneous
37
What are the investigations for Peutz-Jeghers syndrome?
What is the risk of cancer following this?
* Clinical assessment of pigmented lesions
* FBC (risk of anaemia)
* Endoscopy / colonoscopy +/- biopsy
* STK11 gene testing
* Approximately 50% develop and die from cancer by 57
* 93% overall risk of cancer development
38
What is Neurofibromatosis?
* Genetic disorder affecting bone, soft tissue, skin and nervous system
* NF1 v NF2
* Multiple neurofibromas
* Café au lait macules
* Lisch nodules
* NF1 (chr17) and NF2 (ch22)
* NF2 associated with tumours of the nervous system
39
Describe the subtypes of neurofibromatosis.
* **NF1 (von Recklinghausen)**
* ****Chromosome 17
* \>5 café au lait macules (\>5mm)
* Neurofibromas (fleshy soft nodules)
* Lisch nodules
* Axillary freckling
* Tumours on spine, brain, GI tract
* Hypertension
* **NF2**
* ****Multiple tumuours on brain and SC
* Bilateral acoustic neurofibromatosis
* Chromosome 22
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