1.which of the following is caused by a defect in gap junction protein?

a.EB simplex

b.hailey-hailey

c.Erythrokeratoderma variabilis

d.Dyskeratosis congenita

e.Bullous icthyosis of siemens

2.A 4 year old boy presents with generalized white scale.The mother reports that her son was born with
tight membrane enveloping his body.peripheral blood smear is normal.what is the most likely diagnosis:

a.congenital icthyosiform erythroderma

b.lamellar icthyosis

c.netherton syndrome

d.Icthyosis vulgaris

e.neutral lipid storage disease

3.Keratin 1 and keratin 10 are important intermediate filaments in suprabasal keratinocytes.Genetic

mutations of these keratins can lead to which of the following disorder;

a.Netherton syndrome

b.sjogren-larsson syndrome

c.pachonychia congenita

d.BIE

c.white sponge naevus

4.A patient has conradi hunermann happle syndrome with congenital icthyosiform
erythroderma,ventricular septal defect and asymmetric limb shortening.The bone findings for disease is;

a.chondrodysplasia puntata

b.Bowing of knees

c.Invisible bone syndrome

 d.Thickened epiphyses

e.Distal calcification

5.what is the mode of inheritance of lamellar icthyosis;

a.autosomal dominant

b.autosomal recessive

c.Xlinked dominant

d.X linked recessive

e.sporadic

6.Refsum disease is due to deficiency in phytanyl coenzyme A hydroxylase.Treatment for this condition
is;

a.Diet low in green vegetables,dairy and nutrient fat

b.Diet high in green vegetables,dairy and nutrient fat

c.Enzyme replacement

d.none of above

7.The presence of natal teeth suggest which of the following disease

a.congenital syphilis

b.Thalidomide exposure in utero

c.Incontinentia pigmenti

d.Pachonychia congenita

e.Anhidrotic ectodermal dysplasia

8.Non bullous icthyosiform erythroderma is caused by which of the following mutation;

a.TGM1

b.ALOXO12B

c.Lipoxygenase -3 gene

d.both ALOX12B AND ALOXE3

 e.ALL are correct

10.The enzyme defect seen in CHILD syndrome;

a.3-beta-hydroxysteroid dehydrogenase

b.3-beta hydroxysteroid isomerase

c.aryl sulfatase

d.NAD oxido reductase

e.DNA helicase

11.Icthyosis hystrix is characterized by following gene defects;

a.keratin 1 and 9

b.keratin 1 and 10

c.keratin 5 and 14

d.keratin 6 and 16

e.none of above

12.The syndrome characterized by generalized mild hyperkeratosis,erythematous keratotic

plaques,palmoplantar keratoderma,non progressive sensorineural deafness,progressive bilateral
keratitis with secondary blindness is;

a.KID syndrome

b.Vohwinkel syndrome

c.Erythrokeratoderma variabilis

d.CHILD syndrome

e.Refsum syndrome

13.Pruritis in Sjogren Larsson syndrome is attributed to accumulation of what molecules?

a.Bile salts

b.histamine

c.leukotriene
 d.all are correct

e.none are correct

14.A 13 year old girl has wooly hair,keratoderma of soles,edema of the lower extremities,and swelling of
abdomen.A cardiac evaluation reveals rt sided cardiomyopathy.What is the most likely defective
protein;

a.Plakoglobin

b.Plectin

c.Desmocollin

d.Desmoglein

e.Desmoplakin

15.Patients with Chondrodyspalasia puntata can have findings of stippled epiphyses on Xray
examination.which other X linked dominant condition can have epiphyseal stippling;

a.CHILD syndrome

b.Incontinentia pigmenti

c.Focal dermal hypoplasia

d.Goltz syndrome

e.Bazex syndrome

16.A 5 month girl presented with failure to thrive.She has had lifelong atopic dermatitis treated with
topical hydrocortisone cream and has persistent hypernatremia.on exam,she has generalized erythema
and scaling on her body and trichorrhexis invaginate on examination of hair from her eyebrows.which
syndrome she is most likely to have;

a.leiner syndrome

b.omenn syndrome

c.Netherton syndrome

d.wiskott-Aldrich syndrome

e.severe atopic dermatitis

17.A 2 year old boy presents with lamellar type icthyosis on lower limbs,keratotic lichhenification on
neck associated with severe pruritis.His milestones were delayed.There is history of 2 episodes of
seizures 3 weeks back.The mutation occurring in this disease is;

a.FALDH

b.SUMF1

c.ABHD5

d.ST14

c.FATP4

18.All the following diseases are associated with connexin 26(GJB2) except;

a.KID

b.Bart pumphery syndrome

c.Vohwinkel syndrome

d.tay syndrome

e.hystrix like icthyosis deafness

19.A 6months old boy presented with lamellar icthyosis,severe hypotrichosis,absent lashes and
eyebrows.His hair microscopy was done showing dysplastic hair,pili torti.what is the likely diagnosis and
mode of inheritance;

a.Icthyosis-premataurity symdrome and AR

b.Neonatal icthyosis -sclerosing cholangitis and AR

c.Icthyosis with hypotrichosis and AD

d.Icthyosis with hypotrichosis and AR

e.neu-laxova syndrome and AR

20.What genodermatosis results from deficiency of steroid sulfstase enzyme;

a.Icthyosis vulgaris

b.X linked recessive icthyosis

c.Kyrles disease

d.Sjogren Larsson syndrome

 e.Leiners disease

21.The extracutaneous manifestations of X linked icthyosis include all of the following except;

a.renal agenesis

b.Cryptorchidism

c.Inguinal hernia

d.Infertility

e. Retinitis pigmentosa

22.A newborn is seen with a yellowish white ,thick,taut,glistening membrane stretched all over
body.Few days later the membrane gradually peeled off and erythematous soft skin
appeared.Subsequently fine scaling appeared all over body.There was also hyperkeratosis of palms and
soles.Suggest the most likely diagnosis;

a. X-linked Icthyosis
b. Non bullous Icthyosiform erythroderma
c. Netherton syndrome
d. Sjogren Larson syndrome
e. Kallman syndrome

23.In which of the following keratinization disorders increased incidence of cutaneous malignancy has
been reported;

a.KID syndrome

b.Sjogren Larsson syndrome

c.Xlinked recessive icthyosis

d.Xlinked dominant icthyosis

e.Lamellar icthyosis

24.Suggest the diagnosis of patient who comes to you with complains of progressive dimness of
vision,sensory neural deafness,thickened palpable nervesand Icthyosis vulgaris scaling on body;

a.Kid syndrome

b.Sjogren Larsson syndrome

c.Kallman syndrome
 d.refsums disease

e.Neural lipid storage disease

25.A 10 year old child with inguinal lump and absent right testis is referred by a surgeon for evaluation
of a dry scaly rash which is present since early infancy.On examination ypu see rhomboid shape light
brown scales on almost whole body.The most likely diagnosis is;

a.pityriasis rubra pilaris

b.Icthyosis Vulgaris

c.X linked Icthyosis

d.Hurlers syndrome

e.Erythrokeratoderma variabilis