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Adult Years > Skin and Systemic Disease > Flashcards

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.
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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
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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
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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
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5
Q

What is sarcoidosis?

A
  • Multisystem granulomatous disorder
  • Unknown aetiology
  • Characterised by non-caseating granulomas
  • May present with non-specific symptoms
  • Dry cough
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6
Q

What are the treatment options for sarcoidosis?

A
  • Topical or oral steroids
  • Immunosuppression such as hydroxychloroquine
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7
Q

Describe erythema nodosum.

A
  • Acute reactive inflammation of subcutis (panniculitis).
  • Hot tender nodules
  • Fever, arthralgia and malaise
  • Generally self-limiting
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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
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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
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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
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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.
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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
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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
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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
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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
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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
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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
Q
A
26
Q

Describe the examination, investigation and treatment of pruritus.

A
27
Q

Describe Birt-Hogg-Dube syndrome.

A
  • 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
Q

What are the investigations for Birt-Hogg-Dube syndrome?

A
  • Skin biopsy
  • Renal USS
  • CT abdomen
  • CXR
  • ?Colonoscopy
  • Regular screening
29
Q

What is Gardner syndrome?

Describe it.

A
  • 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
Q

What are the cutaneous and non-cutaneous manifestations of Gardner syndrome?

A
  • 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
Q

Describe the diagnosis of Gardner syndrome.

A
  • >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
Q

Describe the characteristics or Gorlin syndrome (basal cell naevus syndrome).

A
  • 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
Q

When does Gorlin syndrome present?

A
  • 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
Q

What is Muir-Torre syndrome?

A

Sebaceous adenomas and carcinomas associated with colorectal cancer.

35
Q

What is Lynch syndrome?

A
  • Hereditary non-polyposis colorectal cancer.
  • Autosomal dominant.
  • Also linked with endometrial and ovarian cancer.
  • Sebaceous adenomas, epitheliomas and carcinomas.
36
Q

What is Peutz-Jeghers Syndrome?

A
  • GI polyps plus pigmentation of mucous membranes.
  • Hamartomas
  • 15x increased risk of internal malignancy.
  • AD or spontaneous
37
Q

What are the investigations for Peutz-Jeghers syndrome?

What is the risk of cancer following this?

A
  • 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
Q

What is Neurofibromatosis?

A
  • 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
Q

Describe the subtypes of neurofibromatosis.

A
  • 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
40
Q
A

Adult Years (27 decks)

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