Genoderm

Question 1

Which of the following ichthyoses is associated with atopy (more than 1 correct answer)

a. Ichthyosis vulgaris
b. Lamellar ichthyosis
c. X linked ichthyosis
d. Ichthyosis linearis circumflexa
e. Ichthyosis bullosa of seimens

Answer 1

a and d. Icthyosis vulgaris is due to the same gene responsible for many cases of atopic dermatitis ie fillagrin. Icthyosis linearis circumflexa is a feature of Netherton syndrome which has an association with atopy.

Question 2

All of the following ichthyoses have an associated ocular finding except

a. Conradi Humnerman
b. X linked ichthyosis
c. Nethertons syndrome
d. Sjogren Larson
e. Refsum’s syndrome

Answer 2

C. Conradi Hunerman ( cholesterol synthetic defect- erythroderma at birth which settles in few weeks to months, whorled hyperkeratosis replaced by follicular atrophoderma and chondrodysplasia punctate) is associated with focal cataracts. XLI get comma shaped corneal opacities; SLS get glistening retinal dots and refsums salt and pepper retinitis

Question 3

Which 2 of the following ichthyoses are associated with scarring alopecia?

a. CHILD syndrome
b. KID syndrome
c. XL ichthyosis
d. Conradi Hunerman
e. Lamellar icthyosis

Answer 3

B and E. KID syndrome and lamellar icthyosis are associated with scarring alopecia

Question 4

Auditory testing is recommended for which of the following palmoplantar keratoderma’s

a. Mal de Meleda
b. Vohwinkel
c. Howell Evans
d. Papillion Lefevre
e. Unna Thost

Answer 4

B. Vohwinkel syndrome is due to a connexion 26 mutation. The connexion mutations are associated with hearing loss

Question 5

A 5yr old child is seen with brown birthmarks. She has 8 oval tan macules 6mm in diameter. In addition there are 1-2mm tan macules in the axilla and groin creases. The most likely skeletal abnormality which may develop is

a. Polyostotic fibrous dysplasia
b. Scoliosis
c. Sphenoid wing dysplasia
d. Short stature

Answer 5

The stem is describing neurofibromatosis type 1. Although sphenoid dysplasia is amongst the diagnostic criteria scoliosis is the commonest skeletal abnormality.

Question 6

You see a 6 month infant with increasing numbers of brown spots. They swell and blister at times. The next most useful investigation would be

a. Skin biopsy
b. Bone marrow trephine
c. Serum tryptase
d. Abdominal ultrasound.

Answer 6

This is of course urticarial pigmentosa. Although a case could be argued for skin biopsy this would be a little extreme in a 6 month old. Se tryptase will confirm your clinical impression and if > 20 indicate further investigations are warranted to exclude systemic involvement.

Question 7

A 2 year old girl is seen with multiple non tender round tan/yellow papules involving her head. They began to appear at 1 month of age. You would recommend

a. Abdominal US
b. Bone marrow trephine
c. Ophthalmological examination
d. Laryngoscopy

Answer 7

Papules and nodules with a yellowish hue in an infant should suggest JXG or in this case benign cephalic histiocytosis. Ophthalmological examination is the most important additional investigation. Systemic involvement is rare but an abdominal US is not unreasonable. BMT would only be indicated if there was clinical evidence of a systemic histiocytosis. Laryngoscopy refers more to lipoid proteinosis.

Question 8

A 10 month old infant is seen with erythroderma dating from early infancy. He has been managed for severe atopic dermatitis. You notice short sparse hair and eyebrows. The gene affected is

a. SPINK5
b. LEKTI
c. GNAS
d. NEMO

Answer 8

Erythroderma, atopic diathesis and hair abnormalities should suggest netherton syndrome. This is due to the SPINK5 gene which encodes the protease inhibitor LETKI.

Question 9

A 65 year old female presents with yellow plaques with associated superficial telangiectasia on both lower legs. She is noted to have reduced sensation, a foot ulcer and deteriorating vision. A biopsy is most likely to show

a. A positive Wide Fite stain
b. Perivascular lymphocytes with tight cuffing
c. Granulomatous inflammation
d. Lipid laden macrophages
e. Cholesterol clefts.

Answer 9

D. The question describes necrobiosis lipoidica in someone who is a diabetic. This of one of the necrobiotic disorders so granulomatous inflammation is to be expected. A wide Fite stain is a stain for acid fast bacilli but the clinical description is not consistent with tuberculoid leprosy. Tight perivascular cuffing is a feature of erythema annulare centrifigum and lipid laden macrophages are seen in xanthomas. Cholesterol clefts would more commonly be seen in xanthomas.

Question 10

A 30 yr old psychiatric patient is referred with scarring and blisters over his dorsal hands. There is a history of intermittent tachycardia and gastrointestinal symptoms. You would expect to find

a. Plasma fluorescence at 626nm
b. Urine fluorescence at 626 nm
c. Uroporphyrinogen> coproporphyrinogen
d. Faecal coproporphyrin>uroporphyrin

Answer 10

A. Once again it is matter of making the correct diagnosis. The combination of neuropsychiatric and cutaneous findings is typical of variegate porphyria. It has classic plasma fluorescence at 626.

Question 11

The development of herpetiform corneal ulcers and palmoplantar keratoderma is associated with the disorders of metabolism of which amino acid

a. Tyrosine
b. Glycine
c. Tryptophan
d. Histidine
e. Leucine

Answer 11

A. This describes ocular-cutaneous tryosinemia or Richner-Hanhart syndrome.

Question 12

Which of the following is most likely to involve the deposition of a keratin derived substance on the legs

a. Nodular amyloid
b. Macular amyloid
c. Lichen amyloid
d. Mutation in the MEFV gene

Answer 12

C. Lichen amyloidosis typically involves the lower legs and macular amyloidosis the upper back. Mutations in the MEFV gene are responsible for Familial Mediterranean fever. This is a cause of secondary amyloidosis and only very rarely has cutaneous manifestations.

Question 13

The most common rash in pregnancy is

a. Pemphigoid gestationis
b. Impetigo herpetiformis
c. PUPP
d. Atopic eruption of pregnancy
e. Autoimmune progesterone dermatitis.

Answer 13

C. PUPP affects about 0.6% of pregnancies. Remember primagravid, onset in the abdominal striae, tends not to recur in subsequent pregnancies and mainly 3rd trimester. Pemphigoid gestationis tends to be second or 3rd trimester, periumbilical and extremities initially. Personally I favour doing biopsies on PUPP to be certain it is not PG.

Question 14

The eruption most characteristically beginning in abdominal striae is

a. Pemphigoid gestationis
b. Impetigo herpetiformis
c. PUPP
d. Atopic eruption of pregnancy
e. Autoimmune progesterone dermatitis

Answer 14

C.

Question 15

Increased fetal mortality is seen in all except

a. Pemphigoid geatationis
b. Impetigo herpetiformis
c. Atopic eruption of pregnancy
d. Cholestasis of pregnancy
e. PUPP

Answer 15

E. This question is probably a little unfair. Obviously PG and impetigo herpetiformis are associated with adverse fetal outcomes and PUPP is not. The evidence for the others is not great but seems to point towards adverse outcomes. It makes intuitive sense as neonatal jaundice is treated with phototherapy and atopics may have adverse outcomes.

Question 16

Leucocytosis, hypocalcemia, hypophosphatemia and increased ESR characterize

a. Pemphigoid gestationis
b. Impetigo herpetiformis
c. Atopic eruption of pregnancy
d. Cholestasis of pregnancy
e. PUPP

Answer 16

B. These lab findings scream pustular psoriasis so impetigo herpetiformis would be the obvious answer.

Question 17

Which of the following formaldehyde related allergens is associated with textile dermatitis ?

a. Diazolidinylurea
b. DMDM hydantoin
c. Imidiazolidinylurea
d. Quarternium 15
e. Melamine formaldehyde

Answer 17

E. Melamine formaldehyde resins are used in permanent press clothing. The other major allergen in textiles are the disperse dyes which are used to stain non- cellulose fibres.

Question 18

Ethylcyanoacrylate is used in which of the following nail products

a. Acrylic nails
b. Nail enamel
c. Pre-formed plastic tips
d. Silk wraps
e. C and D

Answer 18

. E. Cyanoacrylate is of course super glue so is used to fix preformed plastic tips and silk wraps. Ethyl and methyl metacrylates are hard and are thus used in acrylic nails. Nail enamel is tosylamide formadehyde resin

Question 19

Which of the following is a screening agent for triamcinolone allergy?

a. Tixocortal pivalate
b. Budesonide
c. Clobetasol
d. Hydrocortisone butyrate

Answer 19

B. You will need to familiarize yourself with the major corticosteroid structural groups (the other group beside the potency ones). There are 4 of them. Budesonide is used to screen for triamcinolone which is class 2.

Question 20

Which of the following is used to screen for epoxy allergy?

a. Ethylacrylate
b. Glycerol thioglycolate
c. Polyurethane
d. Diglycidyl ether of bisphenol A

Answer 20

D. Diglycidyl ether of bisphenol ether is the monomer of epoxy resin. Industrial glues tend to be either epoxy or acrylates. Epoxy’s are the 2 pack resins. Acrylates are not checked for in the Australian series.

Question 21

A patient with multiple trichilemmomas is at increased risk of which of the following

a. Oral SCC
b. Microcytic adnexal carcinoma
c. Basal cell carcinoma
d. Breast carcinoma
e. Malignant chondroid syringoma

Answer 21

D. Multiple trichilemmomas characterize Cowden’s syndrome. This is due to a PTEN mutation and is characterized by trichilemmoma’s, oral papillomatosis, bone cysts, fibrocystic disease of the breast, macrocephaly, occasionally cerebellar hamatoma’s, carcinoma of the thyroid, ovary, endometrial carcinoma breast neoplasia, colonic carcinoma and acral keratosis. The other PTEN syndrome is Bannayan Riley Ruvalcaba and some variants of Proteus syndrome

Question 22

An 8 year old girl is seen with multiple syringomas on her chest. She is likely to have

a. Birt Hogg Dube syndrome
b. Brooke Spiegler syndrome
c. Down Syndrome
d. Muir Torre syndrome
e. Epidermal nevus syndrome

Answer 22

C. Eruptive syringoma’s in a young patient would suggest Down syndrome

Question 23

Which of the following tumors is least likely to metastasize

a. Porocarcinoma
b. Malignant chondroid syringoma
c. Dermatofibromasarcoma protuberans
d. Sebaceous carcinoma
e. Merkel cell carcinoma

Answer 23

C. DFSP usually don’t metastasize. The others have significant metastatic potential.

Question 24

4. Which syndrome is characterized by the development of multiple trichoepitheliomas and cylindromas
   a. Rombo
   b. Birt Hogg Dube
   c. Bazex syndrome
   d. Cowden syndrome
   e. Brooke Spiegler

Answer 24

4. E. Multiple trichoepithelomas and cylindroma’s caharacterize Brooke Spiegler. This is due to the CYLD gene. Bazex and ROMBO syndromes are characterized by multiple BCC’s, milia hypotrichosis and follicular atrophoderma. Birth Hogg Dube is characterized by fibrofolliculoma, trichodiscoma, achrocordons, pneumothorax and renal cell carcinoma.

Question 25

A 22 y old University student presents with her new boyfriend complaining of tender erythematous nodules on her lower legs. She commenced a new medication 3 weeks ago. The most appropriate management is

a. Biopsy
b. Rest, elevation ad NSIA
c. Colonoscopy
d. Throat culture

Answer 25

B. She has a new boyfriend and has thus been prescribed to OCP. The OCP and pregnancy are both causes of erythema nodosum. She should see her GP about non hormonal contraception. Having said that if she has undiagnosed sarcoidosis and dies of a cardiac arrhythmia the following week where do you stand? To fully “araldite the arse” the list would need to include, biopsy to confirm septal panniculitis, throat swab and strep serology, CXR, se ACE, quantiferon gold, UGE, capsule endoscopy and colonoscopy, mycoplasma serology, faecal multiplex PCR for Yersinia and fungal serology if there had been travel to relevant areas. I suspect there are many correct answers to this question depending on how defensively you choose to practice.

Question 26

A 53 year old Indian with lepromatous leprosy is seen with tender nodules on his lower legs, fever and arthralgia. This type of reaction is

a. Type 1
b. Type 2
c. Jarisch Herxheimer
d. Lucio

Answer 26

B. This is erythema nodosum leprosum which is a type 2 reaction. Type 1 lepromatous reactions are characterized by acute inflammation within lesions and increased neurological symptoms/signs. The lucio phenomenon is the development of haemorrhagic ulcers due to necrotizing vasculitis. The Jarisch Herxheimer recation is seen in syphilis and lyme disease/other borrelioses after treatment with antibiotics and is characterised by fever, tachycardia, diaphoresis and hypotension due to TNF alpha release.

Question 27

You are asked to evaluate a full term newborn infant who presents to the DEM at 3 weeks of age with violaceous erythematous nodules and plaques involving the back and buttocks. Your preferred diagnosis is

a. Sclerema neonatorum
b. Subcutaneous fat necrosis of the newborn
c. Erythema nodosum
d. Alpha 1 AT deficiency

Answer 27

B. The reference to a full term healthy newborn makes the diagnosis subcutaneous fat necrosis. Sclerema neonatorum is diffuse hardening of the subcutaneous fact in ill premature infants which spreads rapidly and has a poor prognosis. Neonatal cold injury is usually seen in term infants of low birthweight exposed to cold. It presents as erythema/cyanosis peripherally and of the face which spread centrally. It is characterised by drowsiness, lethargy and diagnosed with a low reading thermometer. AAT is not seen in this age group

Question 28

A 38 yr old woman presents with progressive loss of subcutaneous fat on the face and torso. Which investigations would confirm the diagnosis

a. HIV serology
b. Sequence of the AGPAT2 gene
c. Sequence of the BSCL2 gene
d. C3NeF assay

Answer 28

D. This is about the lipodystrophies and is not easy because they are not well understood. HIV/protease inhibitor lipodystrophy is characterized by loss of fat form the face and extremities with fat increase on the upper back, posterior neck (Buffalo hump) and breasts so this is not correct. One way of approaching this is to think initially of what else may appear this way which is progeria (Lamin A) and exclude this. Then there are either congenital or acquired and generalized or partial lipodystophy. Generalized tend to be AR and partial AD as expected. Congenital generalized lipodystrophy is traditionally known as Berardinelli Seip and is due to AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase) or BSCL2 mutations. Then there are those associated with acromandibular dysplasia which may be partial (LMNA) or generalized (zinc metalloproteinase) mutations.
The familial partial lipodystophies are AR and traditionally go by the name Dunnigan-Kobblering and can be due to LMNA/C mutations, PPARG or AKT2 mutations.
The acquired generalized lipodystropy classically goes by the name Laurence Seip and the partial Barraquer Simons. The latter is associated with C3 nephritic factor which binds factor H. The latter is a regulatory protein in the alternate complement activation pathway. This results in uncontrolled activation of C3 and renal damage. I suspect all of these will eventually be reclassified on the genetic basis

Question 29

You are contacted by the oncology registrar about a patient with a BNR (bloody nasty rash). He has been commenced on cetuximab for and SCC of the head and neck. You would expect to find all of the following except

a) Papulpustular eruption
b) Xerosis
c) Paronychia
d) Mucocutaneous hemorrhage

Answer 29

D. Cetuximab is an EGFR inhibitor. Like all EGF inhibitors it produces papulopustular eruptions and retinoid like side effects. Mucocutaneous haemorrhage is a feature of anti-angiogenic agents.

Question 30

You are contacted by the surgical registrar about a patient who is to have a myocuatenous flap repair of a deep decubitus ulcer. He is on bevacizumab for an adenocarcinoma of the lung. You would advise

a. To proceed with the surgery but provide antibiotic cover due to the increased risk of infection
b. Bevacizumab is an EGFR inhibitor. Healing will be delayed but shouldn’t contraindicate surgery
c. Bevacizumab needs to be ceased and not be recommenced until 28 days after surgery.
d. He should ask he oncologist to change bevacizumab to ranibizumab

Answer 30

C. Bevacizumab and ranibizumab are VEGFR inhibitors. Surgical wounds won’t heal in the presence of inhibitors of angiogenesis. They need to be stopped for 28 days

Question 31

You are managing a patient with a large dermatofibrosarcoma protruberans. MMS has been organized but you elect to use imatinib to reduce tumor size pre-operatively. Side affects you should warn the patient about include all of the following except

a. Facial oedema
b. Morbilliform eruption within a few days of commencing therapy
c. Pigmentary changes which are generally reversible
d. Worsening of psoriasis

Answer 31

B. Imatinib is a receptor tyrosine kinase inhibitor with activity at PDGFR, abl-bcr fusion proteins and c-kit which explains it use in CML, DFSP and mastocytoses. All of these are reported side effects but the morbilliform eruption usually begins around 9 weeks

Question 32

Which of the following statements regarding inhibitors of intracellular signaling pathways is incorrect

a. The addition of trematinib to vermurafenib would be expected to attenuate the development of eruptive keratocanthoma
b. Trematinib produces papulopustular eruptions because it is an EGFR inhibitor
c. Everolimus can be associated with papulopustular eruptions
d. Dysgeusia is a common side-effect of vismodegib

Answer 32

4. B. Trametinib. This is a MEK inhibitor which is downstream form the EGFR, RAS/RAF and feeds to ERK/MAPK

Question 33

A 56 yr old woman complains of a split nail with a bluish subungual discolouration proximal to the split. There is associated tenderness and temperature sensitivity. The most likely cause is

a. Blue nevus
b. Glomus tumor
c. Myxoid cyst
d. Pyogenic granuloma
e. Squamous cell carcinoma

Answer 33

B. This is a typical description of a glomus tumor.

Question 34

Pterygium inversum unguis is associated with

a. Psoriasis
b. Lichen planus
c. Scleroderma
d. Alopecia areata
e. Congestive cardiac failure

Answer 34

C. Dorsal pterygium is seen with lichen planus. Ventral pterygium is seen with lupus and scleroderma.

Question 35

A 60 old male develops transverse white nail bands that blanch with pressure. You would request

a. CXR
b. Liver function tests
c. Se albumin
d. Hair arsenic

Answer 35

C. Two of these questions are designed to make you think about nail signs

a. Beau’s lines. Transverse ridges which grow out due to growth interruption
b. Mee’s lines. Transverse white lines which grow out due to heavy metal poisoning
c. Meuhrckes lines. Paired parallel lines which do not grow out. Seen with periods of metabolic stress. Hypoalbuminemia, nephritic syndrome, chemotherapy, malnutrition, cirrhosis.
d. Terry’s nail. Leuchonychia with distal pink band. Hypoalbuminemia, liver failure, CCF, diabetes
e. Lindseys’ nail. (half and half nails). Distal 1/ 2 pink, proximal half white. Chronic renal failure

Question 36

A 5yr old boy is seen with a congenital nail dystrophy. You note the lunulae have a triangular shape. He needs assessment by a

a. Audiologist
b. Cardiologist
c. Gastroenterologist
d. Renal physician

Answer 36

D. A nail dystrophy with a triangular lunule suggests nail patella syndrome. This is due to mutations in the LMX1B gene which codes for the LMXB1 transcription factor. This is associated with renal problems

Question 37

Lindseys nail is associated with

a. Renal failure
b. Congestive cardiac failure
c. Diabetes mellitus
d. Hypoalbuminemia

Answer 37

A

Question 38

Which gene/s is associated with this phenotype?
Early onset AD, cold abscesses/lung infections, sion-pulmonary infections, intractable HSV, MCV, HPV infections, multiple food allergies, death in 2nd and 3rd decade

Answer 38

DOCK8

Question 39

Which gene/s is associated with this phenotype?

Early onset AD, cold abscesses/lung infections, skeletal and connective tissue abnormalities?

Answer 39

STAT3

Question 40

Which gene/s is associated with this phenotype?

Early onset dermatitis, leukocytoclastic vasculitis and ataxia

Answer 40

PGM3 (phosphoglutamase) (AR)

Question 41

Which gene/s is associated with this phenotype?

early onset dermatitis, absent Treg cells, enteropathy, type 1 diabetes, thyroid dysfunction

Answer 41

FOXP3 in IPEX syndrome (X linked recessive)

Question 42

Which gene/s is associated with this phenotype?

neonatal pustular eruption progressing to AD

Answer 42

STAT3

Question 43

Which gene/s is associated with this phenotype?

early onset dermatitis, mucocutaneous candidiasis

Answer 43

STAT3

Question 44

Gene in Chronic mucocutaneous candidiasis + invasive fungal infections

Answer 44

CARD9

Question 45

Gene in Chronic mucocutaneous candidiasis + addisons, hypothyroidism

Answer 45

AIRE

Question 46

Gene in Chronic mucocutaneous candidiasis + superficial bacterial infections

Answer 46

IL17RA

Question 47

Gene in Chronic mucocutaneous candidiasis, cold skin abscesses, sinopulmonary infections

Answer 47

STAT3

Question 48

Gene in Chronic mucocutaneous candidiasis , invasive fungal, HSV, autoimmune problems

Answer 48

STAT1

Question 49

Gene in Chronic mucocutaneous candidiasis alone

Answer 49

IL17F

Question 50

Chronic mucocutaneous candidiasis develops because autoantibodies are generated against what

Answer 50

IL17

Question 51

Gene

Multiple DFSP

Answer 51

Adenosine deaminase deficiency

Question 52

Gene

familial myelodysplastic syndrome

Answer 52

GATA2

Question 53

Gene

Lymphoedema, sensorineural hearing loss, genital and extra genital warts

Answer 53

GATA2

Question 54

Gene

warts, EN, monocytopenia

Answer 54

GATA2

Question 55

Congenital diseases where you get a lot of warts

Answer 55

GATA2
EDV
WHIM = CXCR4 (severe neutropenia)