Skin and Systemic Disease Flashcards
How can the skin be linked with systemic disease?
- 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.
What does a vasculitis screen include?
- Clinical hx and examination
- BP
- FBD
- U&E
- LFTs
- ANA, ENA, ANCA
- Urinalysis and urine albumin creatinine ratio
- Skin biopsy +/- immunofluorescence
What are the causes of vasculitis?
- Infections
- Connective tissue diseases
- SLE
- Systemic sclerosis
- Dermatomyositis
- Wegener’s, PAN, Churg-Strauss syndrome
- Malignancy
- Haematologic
- Drugs
- Antibiotics
- Antihypertensives
- Idiopathic
- Henoch-Schonlein Purpura
What is the importance of the size of the vessel involved in vasculitis?
- 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
What is sarcoidosis?
- Multisystem granulomatous disorder
- Unknown aetiology
- Characterised by non-caseating granulomas
- May present with non-specific symptoms
- Dry cough
What are the treatment options for sarcoidosis?
- Topical or oral steroids
- Immunosuppression such as hydroxychloroquine
Describe erythema nodosum.
- Acute reactive inflammation of subcutis (panniculitis).
- Hot tender nodules
- Fever, arthralgia and malaise
- Generally self-limiting
What are the causes of erythema nodosum?
- Infection
- Sarcoidosis
- IBD
- Malignancy
- Pregnancy
- Behcet’s syndrome
- Drugs
- OCP
- Tetracyclines
- Sulphur-based drugs
- Bromides and iodides
What are the appropriate investigations for erythema nodosum?
- Full clinical examination
- Throat swab, ASOT, anti-ds-DNA antibodies
- CXR
- ACE level
- FBS and blood film
- Supportive treatment
What are the dermatological manifestations of hypothyroidism?
- Pretibial myxoedema
- Dry skin
- Can lead to pruritis
- Brittle hair
- Loss of lateral 1/3 of eyebrow
Describe pyoderma gangrenosum.
- Ulceration which may start at site of trauma.
- Purplish edge.
- Enlarging, with undermined edge.
- Association with IBD, RA, myeloid blood dyscrasias.
How should pyoderma gangrenosum be investigated?
What are the treatment options?
- 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
Describe dermatitis herpetiformis.
How is it treated?
- Pruritic vesicular eruption on elbows / buttocks
- Association with coeliac disease
- May pre-date bowel symptoms
- Treat with gluten-free diet +/- Dapsone
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?
- Short synacthen test
- Admitted as an emergency (Addisonian crisis)
- Addison’s disease confirmed
Describe psoriasis.
What are the types of treatment?
- Erythematous scaly plaques
- Often chronic
- May have genetic predisposition
- Topical / systemic treatment
- Associated risk factors
What are the shared common components of psoriasis and metabolic syndrome?
- Chronic inflammation
- TH1 and TH17 response
- Endothelial cell dysfunction
- Angiogenesis
- Metabolic process
- Oxidative stress
- Common genes
When might skin signs be an initial presentation of systemic malignancy?
- As a result of direct spread / metastases
- Paraneoplastic phenomena
- Genetic syndromes with increased risk of malignancy
- Picture: metastatic breast cancer
What does this depict?
Describe it.
- Erythema gyratum repens
- Rash may predate malignancy
- Pruritis
- Rapid spreading of lesions - wood grain pattern
- Lung cancer most common
- 20% not associated with malignancy
What does this depict?
Describe it.
- Sweet’s syndrome
- Acute neutrophilic dermatosis
- Tumid plaques
- Association with haematological malignancy
- Fever and neutrophilia
What does this depict?
Describe it.
- 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
What does this depict?
What are the causes?
- Acanthosis nigricans
- Caused by:
- Insulin resistance
- Adenocarcinoma in older patients
- PCOS
- Familial
What do these depict?
What is it associated with?
- Paraneoplastic pemphigus
- Associated with haematological malignancy and thymoma
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?
Hodgkin’s lymphoma
- Good response to treatment
- Pruritus resolved
What are the causes of generalised pruritus?
-
Haematological
- Iron deficiency anaemia
- Myeloproliferative disorders
- Myeloma and lymphoma
-
Renal disorders
- Uraemia
-
Liver disorders
- Cholestasis
-
Endocrine abnormalities
- Hypo and hyperthyroidism
Describe the examination, investigation and treatment of pruritus.
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
What are the investigations for Birt-Hogg-Dube syndrome?
- Skin biopsy
- Renal USS
- CT abdomen
- CXR
- ?Colonoscopy
- Regular screening
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
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
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.
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
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.
What is Muir-Torre syndrome?
Sebaceous adenomas and carcinomas associated with colorectal cancer.
What is Lynch syndrome?
- Hereditary non-polyposis colorectal cancer.
- Autosomal dominant.
- Also linked with endometrial and ovarian cancer.
- Sebaceous adenomas, epitheliomas and carcinomas.
What is Peutz-Jeghers Syndrome?
- GI polyps plus pigmentation of mucous membranes.
- Hamartomas
- 15x increased risk of internal malignancy.
- AD or spontaneous
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
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
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
