Transcript Q1. A man aged 65yrs presents with a 30yr history of

The Skin in Systemic Diseases
“When you know skin,
you know medicine”
Professor Malcolm W. Greaves, MD, PhD, FRCP
Visiting Professor in Dermatology
Department of Medicine
Universiti Kebangsaan Malaysia
Q1. A man aged 65yrs presents with a 30yr history of severe
digital arthritis, sacroiliac joint involvement and scaly plaques
on the extremities and scalp
• What is the likely diagnosis?
Psoriasis
• What patterns of arthritis are
recognised to occur in this
condition?
Rheumatoid; oligoarthritis; symmetric
digital; sacriliac’spinal; arthritis
mutilans*
• What nail changes occur
typically in this disorder?
Pitting; onycholysis
• Name one common infection
recognised to exacerbate this
condition
HIV
*ref. Moll & Wright, Semin. Arthr. Rheum. 3, 55, (1973)
Q2. A woman aged 50 yrs presents with a 2 yr history of
progressive tongue enlargement, associated with a petechial
rash on the eyelids & lower abdomen
• What is the probable diagnosis?
AL amyloidosis
• How would you confirm the
diagnosis?
Rectal biopsy stained with Congo
red; radiolabelled SAP*
• What abnormality would you look
for :
a. in the serum Immunoglobulin
light chain
b. in the urine
Bence-Jones
proteinuria
• Which internal organs are
classically involved?
Kidneys, heart, intestine, peripheral nerves
ref. Falk et al, NEJM 337,
898 (1997)
Q 3. A 50 yr old man presents with dusky red facial erythema
and periorbital oedema for 3 months and similarly coloured
papules on his knuckles. He has recently had difficulty climbing
his stairs
• What is the probable diagnosis?
Dermatomyositis
• What is the name given to the
lesions on the knuckles?
Gottron,s papules
• What 2 investigations would
you like to do to support this
diagnosis?
•
Serum creatininie kinase
Muscle biopsy for histology
S
What
underlying disease should
e
be rsought in this age group?
u
Internal
malignant neoplasia
m
(Paraneoplastic
syndrome)*
c
r
e
*ref. Callen, Lancet, 357, 85, (2001)
a
Q. 4 A male 21 yr old medical student, recently returned from
an elective in Thailand, presents with a painful urethral
discharge, arthritis, and lesions on the soles of the feet.
• What is the diagnosis?
Reiter’s syndrome
• Name one probable aetiological
microorganism
Chlamydia sp.
• What is the name given to the
lesions on the soles of the feet?
Keratoderma blenorrhagicum
• Which HLA haplotype is
associated with this condition?
HLA B27*
*ref. Archer et al, Br J Rheumatol,
27,306,1988
Q 5. A man aged 32 yrs gives a 15year history of recurrent
mucocutaneous swellings, each lasting around 24 hrs and
often associated with abdominal pain. Some other members of
his family have had a similar problem
•
•
•
What is the probable diagnosis?
Hereditary angioedema
What blood tests should you do to
confirm it?
Serum complement C’4 level (low
value = positive screening test), serum
C’1 inhibitor level (low value confirms
diagnosis)*
What is the mode of inheritance?
Dominant
•
What is an effective treatment in
the emergency room for a severely
affected patient?
Fresh frozen plasma IV, C’1 inhibitor
concentrate IV
*ref. Agostoni, Medicine 71, 206 (1992)
Q6. A 14 yr old boy presents with a 6 day history of a palpable
purpuric rash on the legs with ankle oedema. He gives a
history of a sore throat 2 wks previously. He is febrile, and has
joint pains and swellings
• What is the clinical diagnosis?
Henoch Schonlein purpura
• What is the probable cause in this
patient?
-haemolytic streptococcal sore throat
• Which other organs are classically
involved?
Kidneys, intestine
• What is the immunopathological
marker in the skin in this
condition?*
IgA immune complex
*ref Tancrede-Bohin et al, Arch Dermatol 133, 438, (1997)
Q 7. This 18 yr-old boy from Iraq has suffered severe
photosensitivity since birth, with scarring and digit loss. There
is a history of parental consanguinous marriage. Examination
shows blistering and hypertrichosis, and his teeth are red.
• What is the probable diagnosis?
Erythropoietic porphyria*
• What urinary abnormalities can
be expected?
Urine floresces red on exposure
to long wavelength ultraviolet
due to porphyrins
• What is the principal
haematological abnormality?
Haemolytic anaemia
• What is the mode of inheritance?
Recessive
*ref. Fritsch et al. Amer Acad Dermatol, 36, 594, (1997)
Q 8. A 30 yr-old woman presents with anaemia, with a blood
picture suggesting chronic blood loss. Examination shows
macular pigmentation around the lips and on the oral mucosa –
evidently present since birth, and hereditary.
What is the likely diagnosis?
Peutz – Jeghers syndrome
What is the probable cause of the
anaemia?
Intestinal cancer (most commonly
duodenal)
What would be found on endoscopic
examination?
Intestinal polyposis
What is the mode of inheritance?
Autosomal dominant*
*ref. Jenne et al, Nat. Genet. 18, 38, (1998)
Q 9. A 45 yr-old woman presents with redness, enlargement
and stuffiness of her nose for 9 months. She has also noticed
breathlessness on exertion and a non-productive cough. A CXR
shows changes suggestive of pulmonary fibrosis
• What is the likely diagnosis?
Sarcoidosis*
• What would a skin biopsy of the
nose show histologically?
Non-caseating granuloma
• Which characteristic laboratory
abnormalities are likely to be found
on routine blood investigations?
Raised serum calcium, ACH, ESR,
eosiniphilia
• What abnormalities are
characteristically found in X rays of
the hands?
Bone cyst
Ref. Jorizzo, J Amer Dermatol, 22,439. (1990))
Q 10. A 10 yr – 0ld girl was prescribed a sulphomamide
for an upper respiratory infection. 4 days later she
developed mucocutaneous erosions round the mouth and
a generalised eruption with flaccid bullae and pyrexia
• What is the probable diagnosis?
Steven Johnson syndrome / Toxic
epidermal necrolysis*
• Besides drugs, name two other
recognised causes
Virus infection (H. simplex, Mycoplasma)
GVHD
• What is the most common
complication?
Bacterial infection
• What is the principal histological
change in the skin?
Epidermal necrosis
*Ref. Roujeau, J Invest Dermatol 102, 28s, (1994)
Q 11. A 45 yr-old man presented with a 4-week history of
painful leg ulceration. He had a past history of
intermittent diarrhoea with mucus, accompanied by
weight loss
• What is the probable diagnosis?
Pyoderma gangrenosum
• What is the likely causative
underlying disease in this patient?
Ulcerative colitis or Crohn’s disease
• What other common causes do
you know of ?
Rheumatoid arthritis, leukemia,
paraproteinaemia, autoimmune
connective tissue disease, Behcet’s
syndrome*
• What is the first-line systemic
treatment?
Corticosteroids
Ref. Powell et al, Amer J Med, 55, 173, (1985)
Q 12. A 38 yr-old housewife, recovering from a recent
stroke, presents with a 2-yr history of Raynaud`s
phenomenon and a persistent dusky reticulate-patterned
rash on the legs
• What is the name given to the skin
changes seen on the legs?
Livedo recticularis
• What eponymous syndrome includes
all these features?
Sneddon’s syndrome*
• What serological abnormality is
characteristically associated with
this syndrome?
Anti-phospholipid antibodies
• What would the classical obstetrical
history be in this patient?
Recurrent abortion
*Ref. Sneddon, Br J Dermatol, 77, 180, (1965)
Q 13. A 30 yr-old HIV + man gives a 4-day history of
persistent shoulder pain, diagnosed by his GP as arthritic,
followed by appearance of papulovesicles, localised to the
same site
• What is the likely diagnosis?
Herpes zoster (shingles)))
• What is the causative organism?
Varicella-zoster virus
• What other skin eruption can this
agent cause?
Chickenpox
• Name an effective systemic
treatment
Acyclovir, valacyclovir, famcyclovir, foscarnet*
*Ref. Safrin et al, Ann Int Med 115, 19, (1991)
Q 14. This 28 yr old woman had multiple nodules and polypi on
the trunk and limbs “since birth”and was noted, on routine
ophthalmological examination, to have abnormalities of the
irides. Her son, aged 6, was noted to have several pigmented
lesions on the trunk
• What is the diagnosis?
Neurofibromatosis type I*
• What are the eye lesions called?
Lisch nodules
• What are her son`s skin lesions
likely to be?
CALM (café au lait macules)
• Name two common nonneurofibromatous internal
complications
Astrocytoma, bony abnormalities
including bone tumours,
endocrinopathies including
phaechromocytoma, hypertension
*Ref. Riccardi, NEJM 305, 1617, (1981)
Q 15. A 50 yr-old man presents with a 2-yr history of a
gradually spreading pruritic pigmented maculopapular eruption
which shows localised whealing and itching when individual
lesions are rubbed. The patient is otherwise well
• What is the diagnosis?
Cutaneous mastocytosis
(urticaria pigmentosa)
• How is your diagnosis confirmed?
Histological examination of a skin biopsy
stained with a metachromatic stain e.g.
toludine blue to show increased numbers
of mast cells
• What characteristic systemic
symptoms may the patient develop
in future?
Flushing, headache, diarrhoea, peptic
ulceration, dyspnoea, bone pain*
• List 3 drugs this patient should
avoid
Opioids, codeine, muscle relaxants, dyecontaining radiocontrast media, aspirin
*Ref. Travis, Medicine, 67, 345, (1988)
Q 16. A boy aged 16 with epilepsy has been noted to have
persistent symptomless papular lesions on the face since
aged 10 yrs. There is a positive family history
• What is the diagnosis?
Tuberous sclerosis*
• What other characteristic skin
lesions may the patient have?
Ash leaf hypopigmented macules;
periungal fibromata; shagreen
patches
• Besides epilepsy, what other
characteristic internal
manifestations may this patient
have?
Retinal plaques, rhabdomyomas,
angiomyolipomas, polycystic kidney disease
• What are the characteristic skull
radiological findings?
Intracranial calcificaton (“tubers”,
“candle guttering”)
*Ref. Roach et al, J Chlid Neurol, 7, 221,(1992)
Q 17. A 45 yr-old woman, previously treated for
thyrotoxicosis, but now not on treatment, has developed
dermal nodules on both lower legs
• What is the diagnosis?
Pretibial myxoedema
• What associated clinical
manifestation is visible in most
patients?
Eye changes (proptosis, exophthalmos,
lid retraction)*
• What are the main characteristic
histological findings in involved
skin?
Dermal deposition of glycosaminoglycans
• What effect, if any, will thyroid
replacement therapy have on
these skin lesions?
No effect
*Ref. Fatourechi et al, Medicine, 73, 1, (1994)
Q 18. A woman aged 40 yrs with rheumatoid arthritis has over a
prolonged period received numerous drugs systemically for this
indication. She now presents with progressive pigmentary
changes on both lower legs and feet
• Which drug, used for this indication,
is recognised to cause these skin
changes?
Antimalarial (chloroquine, hydroxychloroquine)*
• Name one other chronic adverse
effect which can result from longterm administration of this
compound
retinopathy
• What is the nature of the pigment
deposited in this patient`s skin?
Complex of drug with melanin
• Name 2 unrelated drugs which can
cause similar pigmentary skin
changes
Phenothiazines, amiodarone, minocycline, silver salt
*Ref. Tuffanelli, Arch Dermatol, 33, 419, (1963)
Q 19. A 40 yr-old man presented to the skin clinic with
persistent swelling of the lower lip which , upon palpation, was
indurated. Examination inside the mouth showed a cobblestone
thickening of the palatal mucosa. He had a previous history of
chronic inflammatory bowel disease
• What is the probable diagnosis?
Crohn’s disease
• What are the histological appearances of a
skin biopsy in this condition?
Non-caseating granuloma
• What other mucocutaneous manifestations
are recognised to occur commonly in this
condition?
Sinuses and fistula in the perianal area,
pyoderma gangrenosum, vasculitis, aphthous
ulcer*
• What other condition closely mimics the
oral muco-cutaneous and histological
changes occuring in this patient?
Melkersson-Rosenthal syndrome
*Ref. Church, Int J colorect Dis, 8, 117, (1993)
Q 20. A 42 yr – old woman presents with a 3 yr history of a
persistent eruption with a butterfly pattern on the face. She is
otherwise well. Examination of the lesion reveals scarring,
depigmentation, telangiectasia, follicular plugging and carpettack scaling. There are no other skin or mucosal abnormalities.
• What is the diagnosis?
Discoid lupus erythematosus
• What are the main histological
appearances of a skin biopsy?
Basal cell vacuolation and liquifaction
degeneration, dermal inflmmatory infiltrate,
often periappendigeal
• What are the approximate percentage
chances of development of systemic
involvement in this patient?
5%*
• What advice would you offer to
prevent further extension of this
lesion?
Sun exposure avoidance, and use of sun screen
*Ref. Southeimer, Lupus, 6, 84, (1997)