ICHTHYOSES,

Question 1

• Darier’s disease (keratosis follicularis) mutation, inheritance

Answer 1

AD, calcium ATPase IIA2 (SERCA2).

Question 2

• Darier’s disease (keratosis follicularis)

Answer 2

Hyperkeratotic papules in seborrheic area

acrokeratosis verruciformis of Hopf, palmar keratoses and pits

cobblestoning of oral and
rectal mucosae

red-white longitudinal nail bands, v-shaped distal nail nicks

Question 3

Worsened by lithium

Answer 3

• Darier’s disease (keratosis follicularis)

Question 4

AD, connexin 26 mutation, sporadic

inheritance,

Answer 4

KID syndrome:

Question 5

AR/sporadic, ABCA12 gene reported

Answer 5

Harlequin fetus

Question 6

Mutation in ABHD5 gene. Cannot break down triglycerides and these fats accumulate in skin, liver,
muscles, intestine, eyes, and ears.

Answer 6

Chanarin-Dorfman syndrome (Neutral lipid storage disease with ichthyosis):

Question 7

keratitis-ichthyosis-deafness, generalized mild hyperkeratosis, erythematous, keratotic plaques, palmoplantar keratoderma

nonprogressive sensorineural deafness, progressive bilateral keratitis, with
secondary blindness

Answer 7

KID syndrome:

Question 8

Large diamond-shaped plaques

of scale, low birth weight, ectropion and eclabium. High mortality rate.

Answer 8

Harlequin fetus

Question 9

Cross-beta keratin

tonofilament structure

Answer 9

Harlequin fetus

Question 10

Ichthyosis usually present at birth. Additional features:
hepatomegaly, cataracts, ataxia, hearing loss, short stature, myopathy, nystagmus, and mild
intellectual disability

Answer 10

Chanarin-Dorfman syndrome (Neutral lipid storage disease with ichthyosis):

Question 11

– Decreased filligrin/profillagrin

Answer 11

Ichthyosis vulgaris

Question 12

Compact hyperkeratosis with normal granular

Answer 12

XL Ichthyosis

Question 13

• Steroid sulfatase gene

– Arylsulfatase C

Answer 13

XL Ichthyosis

Question 14

Corneal opacities, cryptorchidism (testicular cancer risk) and prolonged labor for child’s mother

Answer 14

XL Ichthyosis

Question 15

– Retention hyperkeratosis and decreased granular layer

Answer 15

Ichthyosis vulgaris

Question 16

• AD• Onset at 3 months of age

* Atopic derm and KP related

Answer 16

Ichthyosis vulgaris

Question 17

• Within a few weeks of life

* Neck most prominent (dirty appearance)

Answer 17

XL Ichthyosis

Question 18

• AD

* K1 and 10

Answer 18

BCIE (EHK)

Question 19

• AR

* Transglutaminase-1, 12R-lipoxygenase (ALOX12B), lipoxygenase 3 (ALOXE3)

Answer 19

NBCIE

Question 20

• Fine scaling with erythema
• Flexures prominent
• MR and growth retardation
• Colloidian baby

Answer 20

NBCIE

Question 21

• AR

* Transglutaminase 1

Answer 21

Lamellar

Question 22

• Colloidian baby
• Ectropion, eclabion, alopecia
• Thick scales, palms, sole

Answer 22

Lamellar

Question 23

• Redness and blistering at birth

* Brown hyperkeratosis and erosions

Answer 23

Ichthyosis Bullosa of Siemens

Question 24

• AD

– K2e

Answer 24

Ichthyosis Bullosa of Siemens

Question 25

* Bullae at birth | * Malodorous plaques, accentuated skin lines

Answer 25

BCIE (EHK)

Question 26

– Hyperkeratosis and upper dermal vacuolar with clumped keratin

Answer 26

BCIE (EHK)

Question 27

– Lipid laden vacuoles in keratinocytes and granulocytes

Answer 27

Triglyceride Storage Disease with Impaired Fatty Acid Oxidation

Question 28

* AD * GJB3 * GJB4

Answer 28

Erythrokeratoderma Variabilis

Question 29

* Fixed hyperkeratotic plaques on face and extremities * Transient erythematous patches * Hypertrichosis

Answer 29

Erythrokeratoderma Variabilis

Question 30

– Gap junction protein connexin 31

Answer 30

GJB3 – EKV

Question 31

• GJB4 | – Gap junction protein connexin 30.3

Answer 31

– EKV and erythema gyratum repens

Question 32

* AR * Tight, restrictive adherent skin with fixed, pinched facies * Contractures of limbs * Death early

Answer 32

Restrictive Dermopathy

Question 33

* Thick, restrictive plates | * Ectropion and bulging eyes

Answer 33

Harlequin Fetus

Question 34

* AR | * ABCA12 gene/protein defect

Answer 34

Harlequin Fetus

Question 35

• Sepsis • Death in one week normally • Treatment – Isotretinoin may prolong survival

Answer 35

Harlequin Fetus

Question 36

* AR | * CG158

Answer 36

Triglyceride Storage Disease with Impaired Fatty Acid Oxidation

Question 37

* Fine scaling on redness * Fatty liver * Ectropion, cataracts, myopathy, neuro

Answer 37

Triglyceride Storage Disease with Impaired Fatty Acid Oxidation

Question 38

* AR | * FALDH def

Answer 38

Sjogren-Larsson

Question 39

* Ichthyosis * MR, spasticity * “Glistening white dots” on retina

Answer 39

Sjogren-Larsson

Question 40

* XD | * Sterol isomerase emopamil-binding protein

Answer 40

Chondrodysplasia Punctata (CP) (Conradi-Hunermann)

Question 41

* Whorled/linear ichthyosis, erythroderma on Blaschko’s lines, follicular atrophoderma * Failure to thrive * Stippled and punctuate calcification of sternum, ribs, scapulae * Eye, kidney, CNS abnormalities

Answer 41

Chondrodysplasia Punctata (CP) (Conradi-Hunermann)

Question 42

* AR | * Phytanoyl-CoA hydroxylase

Answer 42

Refsum

Question 43

Cannot metabolize phytanic acid

Answer 43

Refsum

Question 44

* Fine scaling, thickened palms and soles | * Retinitis pigmentosa, 4th metatarsal shortening

Answer 44

Refsum

Question 45

* XD | * NSDHL

Answer 45

CHILD

Question 46

* UL icthyotic erythroderma (Blaschko’s) * IL defects * Cardiac * Lung * GU

Answer 46

CHILD

Question 47

* AR | * Peroxisomal disease

Answer 47

Rhizomelic CP

Question 48

PEX7

Answer 48

Type I—Rhizomelic CP

Question 49

DHAPAT

Answer 49

Type II—Rhizomelic CP

Question 50

alkyl-DHAP synthetase

Answer 50

Type III—Rhizomelic CP

Question 51

* Diffuse fine scaling, erythema and alopecia | * Dwarfism

Answer 51

Rhizomelic CP