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Skin and systemic disease Flashcards

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Dermatology Board Prep flashcards
1
Q

What is Curth’s postulate?

A

Curth’s postulates are criteria used to identify a consistent relationship between an internal malignancy and a cutaneous disorder:

  • concurrent onset
  • parallel course
  • uniform site or type of neoplasm
  • statistically significant association
  • genetic linkage
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2
Q

What dermatological conditions are often seen in cancer patients?

A
  • Carcinoid Syndrome
  • Paraneoplastic pemphigus
  • Erythema Gyratum Repens
  • Acquired hypertrichosis
  • Leser Trelat
  • Bazex Syndrome
  • Ectopic ACTH syndrome
  • Pagets Disease: normal and extra-mammary
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3
Q

Describe carcinoid syndrome and how it presents dermatologically

A

Carcinoid syndrome is a paraneoplastic syndrome comprising the signs and symptoms that occur secondary to carcinoid tumors. The syndrome includes flushing and diarrhea, and less frequently, heart failure, emesis and bronchoconstriction. It is caused by endogenous secretion of mainly serotonin and kallikrein.
Signs include:
– Episodic flushing, mins –hours, no trigger
– Facial telangiectasia (spider veins)
– Usually caused by GI carcinoid, often with liver mets
– If from bronchial or ovarian tumour, no liver mets

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4
Q

Describe paraneoplastic pemphigus and how it presents dermatologically

A

Paraneoplastic pemphigus (=blistering skin condition) is an autoimmune disorder stemming from an underlying tumor. It is hypothesized that antigens associated with the tumor trigger an immune response resulting in blistering of the skin and mucous membranes.
o Erosive stomatitis (ulcers/erosions of oral mucosa and lips)
o Rash
o Non-hodgkins, Castlemans disease (produces the autoantibody)

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5
Q

Describe Erythema gyratum repens and how it presents dermatologically

A

Erythema gyratum repens (also known as “Gammel’s disease”) is a figurate erythema that is rapidly moving and usually a marker of underlying cancer, usually from the lung. Very rarely seen
o Concentric erythematous lesions
o Variable sites & types of malignancy

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6
Q

What is the other name for Gammels disease?

A

Erythema gyratum repens

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7
Q

Describe acquired hypertrichosis lanuginosa, what conditions its linked to and how it presents dermatological

A

Acquired hypertrichosis lanugo-type or hypertrichosis lanuginosa acquisita (HLA) is often associated with metabolic and endocrine disorders and use of certain drugs. Colloquially known as “Werewolf syndrome”

  • Acute onset of lanugo hairs at face and body
  • Lanugo hairs are the ones found on newborns, rare in adults
  • Colorectal ca > lung > breast, usually advanced
  • Also often seen in those with eating disorders
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8
Q

Describe Leser-Trélat, what conditions its linked to and how it presents dermatological

A

The Leser-Trélat sign is the explosive onset of multiple seborrheic keratoses (many pigmented skin lesions), often with an inflammatory base. This can be an ominous sign of internal malignancy as part of a paraneoplastic syndrome. In addition to the development of new lesions, preexisting ones frequently increase in size and become symptomatic

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9
Q

Describe Bazex syndrome, what conditions its linked to and how it presents dermatological

A

o Hyperkeratosis of extremities e.g. hands, feet, ears, nose
o Resembles psoriasis, non-specific fx on skin biopsy
o Gastric, colon, biliary adenocarcinomas, bronchial, oropharyngeal

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10
Q

Describe ectopic ACTH syndrome, and how it presents dermatologically

A
  • Tumour production of ACTH leads to generalised hyperpigmentation
  • ACTH -> Inc. MSH -> release of melanin from melanocytes
  • Tanned skin and hyperpigmention of buccal mucosa
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11
Q

Describe classic Paget’s and extra-mammary Paget’s, and how it presents dermatologically

A

Pagets Disease:
– Eczematous plaque at nipple/areola
– Affects 1-4% of women with breast cancer
– Extension of underlying ductal adenocarcinoma

Extra-mammary Pagets:
– Often a primary intraepithelial adenocarcinoma
– Occasionally secondary to underlying visceral tumour: bladder, colon (why its seen near the anus and genitalia)

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12
Q

What are 2 conditions strongly associated with cancer?

A
  • Acanthosis Nigricans

* Dermatomyositis

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13
Q

Describe Acanthosis Nigricans, and how it presents dermatologically

A

Acanthosis nigricans is a skin condition characterized by areas of dark, velvety discoloration in body folds and creases. The affected skin can become thickened. Most often, acanthosis nigricans affects your armpits, groin and neck.

Linked to cancer and diabetes

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14
Q

What skin conditions presents as a dark velvety appearance of skin in body folds and creases?

A

Acanthosis nigricans

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15
Q

When should you be concerned about Acanthosis nigricans?

A 
Can preceed malignancy (gastric adenocarcinoma). ?related to by-products. Concern if:
o	Older patient, rapid onset
o	Other skin signs
o	Involves lips
o	Weight loss
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16
Q

Describe Dermatomyositis, and how it presents dermatologically

A

Inflammatory myopathy + rash
– Periorbital heliotrope rash
– Gottrons papules: red maculo-papular lesions over bony prominences e.g. over knuckles
– Shawl sign – seen on chest and across the back
– Photosensitive poikiloderma
– Scalp erythema

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17
Q

What are Gottrons papules?

A

Gottrons papules: red maculo-papular lesions over bony prominences e.g. over knuckles

Seen in Dermatomyositis

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18
Q

What condition presents dermatologically with periorbital heliotrope rash, gottrons papules, shawl sign rash, photosensitive poikiloderma and scalp erythema, as well as symptoms of weak/painful muscles?

A

Dermatomyositis

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19
Q

Describe bullous pemphigoid, what conditions its linked to and how it presents dermatologically

A

AI condition causing annular blister rash

May be associated with cancer

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20
Q

Describe Sweets syndrome, what conditions its linked to and how it presents dermatologically

A

acute febrile neutrophilic dermatosis, characterized by the sudden onset of fever, an elevated WBC, and tender, red, well-demarcated papules and plaques that show dense infiltrates by neutrophil granulocytes on histologic examination, often after infections

Linked to cancer

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21
Q

Describe pyoderma gangrenosum, what conditions its linked to and how it presents dermatologically

A

Pyoderma gangrenosum - condition that causes tissue to become necrotic, causing deep ulcers that usually occur on the legs (shins). When they occur, they can lead to chronic wounds. Ulcers usually initially look like small bug bites or papules, and they progress to larger ulcers.

Linked to IBD and some malignancies

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22
Q

Describe acquired ichthyosis, what conditions its linked to and how it presents dermatologically

A

Acquired ichthyosis - non-hereditary condition, dry and rough skin with scaling (“fish scale” skin), not inherited, linked to deficiencies/tumour

Linked to cancer

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23
Q

Describe acquired angioedema, what conditions its linked to and how it presents dermatologically

A

Acquired angioedema – AI/idiopathic disease causing swelling of face and lips not caused by allergy. Can be linked to tumours

Linked to cancer

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24
Q

Describe primary systemic amyloidosis, what conditions its linked to and how it presents dermatologically

A

Primary systemic amyloidosis – build up of amyloid deposits

Linked to cancer

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25
Q

What are some genetic tumour syndromes which can present dermatologically?

A

Peutz-Jeghers: melanosis, colon hamartomas

Muir-Torre: sebaceous tumours, keratoacanthomas, GI, breast, GU

Neurofibromatosis: Café au lait, Ax freckles, Neurofibromas, nerve sheath, phaeoCCyT, carcinoid

MEN syndromes: angiofibromas, neuromas, lichen or macular amyloid (MEN2), endocrine, P’s

Xeroderma pigmentosum: inability to repair sun damage, sarcoma, leukaemia, GI, lung

Howel-Evans: palmoplantar keratoderma, oesophageal

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26
Q

What is Peutz-Jeghers syndrome?

A

Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized by the development of:
o Benign hamartomatous polyps in the gastrointestinal tract - big lumps on GI mucosa
o Hyperpigmented macules on the lips and oral mucosa (melanosis) - small brown spots on lips and mouth

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27
Q

What genetic cancer syndrome can be recognised by benign polyps on the GI mucosa and hyperpigmented macule on the lips and oral mucosa?

A

Peutz–Jeghers syndrome

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28
Q

How is Peutz–Jeghers syndrome inherited?

A

Autosomal dominant

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29
Q

Describe Muir-torre syndrome

A

Muir–Torre syndrome (MTS) is a rare hereditary, autosomal dominant cancer syndrome that is thought to be a subtype of HNPCC. Individuals are prone to develop cancers of the colon, genitourinary tract, and skin lesions, such as:
o Keratoacanthomas - common low-grade skin tumour that is believed to originate from the neck of the hair follicle
o Sebaceous tumors – malignant tumour that arises from sebaceous glands

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30
Q

What genetic cancer syndrome can be recognised by keratocanthomas (tumours arising from hair follicles) and sebaceous tumours?

A

Muir–Torre syndrome (MTS)

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31
Q

What genetic cancer syndrome causes patients to be prone to develop cancers of the colon, genitourinary tract, and skin lesions?

A

Muir–Torre syndrome (MTS)

32
Q

How is Muir–Torre syndrome (MTS) inherited?

A

Autosomal dominant

33
Q

Describe neurofibromatosis

A

Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are:

o Neurofibromatosis type 1 (NF1) – light brown spots on skin, freckles on armpits and groin, small bumps within nerves and scoliosis. Tumours generally non cancerous

o Neurofibromatosis type 2 (NF2) – hearing loss, early onset cataracts, balance problems, flesh coloured skin flaps, muscle wasting. Tumours generally non-cancerous

o Schwannomatosis - multiple cutaneous schwannomas, central nervous system tumors, and other neurological complications, excluding hallmark signs of NF.

34
Q

Describe multiple endocrine neoplasia (MEN) syndrome

A

The term multiple endocrine neoplasia (MEN) encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. In some cases, the tumors are malignant, in others, benign. Benign or malignant tumors of nonendocrine tissues occur as components of some of these tumor syndromes.

MEN syndromes are inherited as autosomal dominant disorders

35
Q

How is multiple endocrine neoplasia (MEN) syndrome inherited?

A

Autosomal dominant

36
Q

Describe Xeroderma pigmentosum

A

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient.

Blotchy sun damaged appearing skin – very close care of skin in the sun

37
Q

What genetic cancer syndrome results in an ability to repair damage of the skin from sun?

A

Xeroderma pigmentosum

38
Q

How is Xeroderma pigmentosum inherited?

A

Autosomal recessive

39
Q

Describe Howel-Evans syndrome

A

Howel–Evans syndrome is an extremely rare condition involving the thickening of the skin in the palms of the hands and the soles of the feet (hyperkeratosis). This familial disease is associated with a high lifetime risk of esophageal cancer.

40
Q

What tumour syndrome is associated with an increased risk of oesophageal cancer?

A

Howel-Evans syndrome

41
Q

What cancer is closely associated with Howel-Evans syndrome?

A

Oesophageal cancer

42
Q

What genetic tumour syndrome presents with hyperkeratosis (thickening of skin on palms and soles)?

A

Howel-Evans syndrome

43
Q

Describe some dermatological conditions associated with genetic GI disease?

A

Hereditary haemorrhagic telangiectasia – rare AD genetic disorder leading to abnormal blood vessel formation in the skin, mucus membranes and various organs (lung, liver, brain)

Ehlers danlos (collagen) – genetic connective tissue disorder. Causes loose joints, stretchy skin and abnormal scar formation

Pseudo xanthoma elasticum (elastic) - genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis.

Blue rubber bleb naevus syndrome - rare condition that is characterized by numerous malformations of the venous system that significantly involve the skin and visceral organs; appear as blue blebs

All can cause GI haemorrhage

44
Q

Describe Hereditary haemorrhagic telangiectasia

A

Hereditary haemorrhagic telangiectasia – rare AD genetic disorder leading to abnormal blood vessel formation in the skin, mucus membranes and various organs (lung, liver, brain). Can cause GI haemorrhage

45
Q

Describe Ehlers danlos

A

Ehlers danlos (collagen) – genetic connective tissue disorder. Causes loose joints, stretchy skin and abnormal scar formation. Can cause GI haemorrhage

46
Q

Describe pseudoxanthoma elasticum

A

Pseudo xanthoma elasticum (elastic) - genetic disease that causes fragmentation and mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. Can cause GI haemorrhage

47
Q

Describe blue rubber bleb naevus syndrome

A

Blue rubber bleb naevus syndrome - rare condition that is characterized by numerous malformations of the venous system that significantly involve the skin and visceral organs; appear as blue blebs. Can cause GI haemorrhage

48
Q

Describe malignant atrophic papulosis (degos disease)

A

Malignant atrophic papulosis (degos disease) - form of occlusive small vessel vasculopathy. The blood vessels affected include those supplying the skin, gastrointestinal tract and central nervous system.
– Linked to reccurent GI haemorrhage

49
Q

What vitamin deficiencies present dermatologically?

A

Vitamin A
Vitamin C
Niacin

50
Q

How does vitamin A deficiency present dermatologically?

A

Vitamin C deficiency – scurvy (first manifested as rough dry skin and corkscrew hair growth).

Also known to cause hyperkeratosis pillaris (bumpy rough skin, especially present on upper arms)

51
Q

How does niacin deficiency present dermatologically?

A

Niacin deficiency - causes “Casal’s necklace” pigmented rash around neck, sign of pylagera (diarrhea, dermatitis, dementia, death)

52
Q

List some skin signs of diabetes

A
  • Acanthosis nigricans
  • Acral erythema - red peeling palms and soles
  • Carotenemia – orange discolouration
  • Diabetic bullae – blisters
  • Diabetic dermopathy – “shin spots”, dull-red papules that progress to well-circumscribed, small, round, atrophic hyperpigmented skin lesions usually on the shins.
  • Disseminated granuloma annulare - widespread skin- coloured, pinkish or slightly mauve-coloured patches
  • Eruptive xanthomas - crops of small, red-yellow papules; Most commonly arise over the buttocks, shoulders, arms and legs but may occur all over the body
  • Necrobiosis lipoidica - necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis; shiny red -brown or yellowish patches
  • Rubeosis - neovascularization of the iris
  • Scleredema - rare, self-limiting skin condition defined by progressive thickening and hardening of the skin, usually on the areas of the upper back, neck, shoulders and face. Appears dark
53
Q

Describe aural erythema

A

Acral erythema – red peeling palms and soles of feet

Seen in diabetes

54
Q

Describe diabetic dermopathy

A

Diabetic dermopathy – “shin spots”, dull-red papules that progress to well-circumscribed, small, round, atrophic hyperpigmented skin lesions usually on the shins.

Seen in diabetes

55
Q

Describe disseminated granuloma annulare

A

Disseminated granuloma annulare - widespread skin- coloured, pinkish or slightly mauve-coloured patches

Seen in diabetes

56
Q

Describe eruptive xanthoma

A

Eruptive xanthomas - crops of small, red-yellow papules; Most commonly arise over the buttocks, shoulders, arms and legs but may occur all over the body

Seen in diabetes

57
Q

Describe necrobiosis lipoidica

A

Necrobiosis lipoidica - necrotising skin condition that usually occurs in patients with diabetes mellitus but can also be associated with rheumatoid arthritis; shiny red -brown or yellowish patches

Seen in diabetes

58
Q

Describe scleroderma

A

Scleredema - rare, self-limiting skin condition defined by progressive thickening and hardening of the skin, usually on the areas of the upper back, neck, shoulders and face. Appears dark

59
Q

How can hyperthyroidism present dermatologically?

A

Hyperthyroid – proctosis, markings on leg, pretibial myxoedema

60
Q

How can hypothyroidism present dermatologically?

A

Hypothyroid – “peaches and cream” face, look tired

61
Q

Describe the signs of cutaneous lupus

A

Presents as annular markings on body and “butterfly marking” on face (redness on cheeks and nose)

62
Q

List some skin conditions caused by autoimmune reactions

A
  • Cutaneous lupus
  • Cutaneous vasculitis
  • Alopecia
  • Vitiligo
63
Q

Describe alopecia areata

A

Alopecia areata – follicles are “asleep” so can start working at any time again though may take some time

64
Q

What type of alopecia is sometimes reversible i.e. hair can grow back?

A

Alopecia areata

65
Q

What type of alopecia is irreversible i.e. hair does not grow back?

A

o Scarring alopecia

o Androgenic alopecia (male-pattern hair loss

66
Q

What is vitiligo?

A

Vitiligo is a disease in which the pigment cells of the skin, melanocytes, are destroyed in certain areas. Symptoms and signs of vitiligo include loss of skin color in the form of depigmented, or white, patches of skin in any location on the body.

67
Q

What is linked to episodic flushing and facial telangiectasia (spider veins)?

A

Carcinoid syndrome

68
Q

What conditions is linked to erosive stomatitis (ulcers/erosions/blisters of oral mucosa and lips) and a rash?

A

Paraneoplastic pemphigus

69
Q

What conditions are linked to paraneoplastic pemphigus?

A

Non-hodgkins and Castlemans disease (produces the autoantibody)

70
Q

What condition shows concentric erythematous lesions?

A

Erythema gyratum repens

71
Q

What is the other name for Werewolfs syndrome?

A

Acquired hypertrichosis lanuginosa

72
Q

What is seen in acquired hypertrichosis lanuginosa?

A

Acute onset of lanugo hairs at face and body

73
Q

What can cause acquired hypertrichosis lanuginosa?

A

Acquired hypertrichosis lanuginosa - often associated with metabolic and endocrine disorders and use of certain drugs. Also seen in eating disorders

74
Q

What condition causes eruptive seborrhoeic keratosis?

A

Leser-Trélat

75
Q

What is Leser-Trélat linked to?

A

GI adenocarcinomas

76
Q

What condition causes psoriasiform changes of hands, feet, ears, and nose, with involvement of the nails and periungual tissues?

A

Bazex syndrome

77
Q

What syndrome causes tanned skin and hyper pigmentation of the oral mucosa?

A

Ectopic ACTH syndrome

Dermatology (12 decks)

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