Spitz 1a Ichthyoses

Question 1

*** are characterized by widespread distribution of skin scaling

Answer 1

Ichthyoses

Question 2

*** are characterized by discrete areas of erythema and hyperkeratosis, but not necessarily scaling

Answer 2

Erythrokeratodermas

Question 3

Retention hyperkeratosis, normal epidermal proliferation

Answer 3

Ichthyosis vulgaris

Question 4

Ichthyosis vulgaris caused by Lack of *** leading to abnormal barrier function, increased TEWL, xerosis

Answer 4

filaggrin

Question 5

Ichthyosis vulgaris
Associated findings:
Inheritance:
Incidence:
Treatment:

Answer 5

Associated findings: KP, AD
Inheritance:AD. Heterozygous mild, homo severe
Incidence:1:250-2000
Treatment: emollients, humectants (urea)

Question 6

icthyosis with “dirty neck” in infancy

Answer 6

X-linked ichthyosis

Question 7

X-linked ichthyosis
Gene:
common PMH:

Answer 7

steroid sulfatase (STS)

failure of labor to begin, low placental sulfatase/estrogen, increased fetal DHEAS

Question 8

Steroid sulfatase (STS) is located in ***and secreted between cells of the stratum corneum

Answer 8

lamellar bodies

Question 9

STS degrades ***, producing cholesterol for the epidermal barrier

Answer 9

cholesterol sulfate and DHEAS

Question 10

Cholesterol sulfate is an ***; in absence of steroid sulfatase, normal degradation of the stratum corneum desmosomes is inhibited, resulting in ###

Answer 10

***epidermal protease inhibitor

Question 11

GU issue in X-linked ichthyosis

Answer 11

Cryotporchidism (20%)

Question 12

increased risk of *** cancer

Answer 12

testicular (even if descended testes)

Question 13

Why does labor fail to procress in Xlinked ichthyosis

Answer 13

Estrogen formation requires DHEAS deconjugation. Without estrogen, the cervix does not dilate, causing failure to progress

Question 14

Xlinked ichthyosis: what do female carriers show on PE?

Answer 14

comma shaped corneal opacities

Question 15

Xlinked ichthyosis: What would be your concern if this patient was unable to smell?

Answer 15

Contiguous gene deletion syndromes (10%)

• Kallmann: MR, hypogonadism, anosmia
• XLR chondrodysplasia punctata

Question 16

XLR Disorders

pneumonic
CHAD’S Kinky WIFE

Answer 16

Chronic Granulomatous Disease
 Hunter’s Disease
 Anhidrotic Ectodermal Dysplasia
 Dyskeratosis Congenita
 SCID
 Menke’s Kinky Hair
 Wiscott-Aldrich
 X-linked Ichthyosis
 Fabry’s Disease
 Ehlers-Danlos types 5 and 9

Question 17

ichthyosis with corrugated scale pattern

Answer 17

Epidermolytic hyperkeratosis (EHK)

aka Bullous congenital ichthyosiform erythroderma

Question 18

Epidermolytic hyperkeratosis (EHK) is also known as

Answer 18

Bullous congenital ichthyosiform erythroderma

Question 19

Epidermolytic hyperkeratosis (EHK)
Inheritance:
Gene mutation:
Location
Phenotype:

Answer 19

Inheritance: AD (50% spontaneous)
Gene mutation: K1 and K10 (spinous layer)
Location: suprabasal keratinocytes
Phenotype: defective keratin filaments cause cytolysis and blistering/erosions

Question 20

***: Shedding of stratum corneum  painful erosions

Answer 20

mausering

Question 21

Mosaic variant of Epidermolytic hyperkeratosis (EHK)

Answer 21

ichthyosis hystrix

Question 22

Presentation of Epidermolytic hyperkeratosis (EHK)

Answer 22

widespread bullae, erythroderma, mausering

Question 23

A patient has flexural corrugated scale, and you notice the parent does as well, but there is no history of major erosions at birth. Diagnosis?

Answer 23

Ichthyosis bullosa of Siemens (AKA superficial epidermolytic ichthyosis)

Question 24

mutation in Ichthyosis bullosa of Siemens (AKA superficial epidermolytic ichthyosis)

Answer 24

Keratin 2e

Question 25

Lamellar ichthyosis Inheritance: Gene mutation: Phenotype:

Answer 25

Inheritance: AR Gene mutation: transglutaminase-1 Phenotype: TG1 normally crosslinks proteins to make cornified envelope. Mutation = defective cornification, desquamation

Question 26

Presentation of lamellar ichthyosis

Answer 26

colloidion baby without erythroderma

Question 27

CIE

Answer 27

Congenital ichthyosiform erythroderma

Question 28

Congenital ichthyosiform erythroderma (CIE) inheritance Gene defect Other associated findings

Answer 28

inheritance: AR Gene defect: TGM1, ALOX, ABCA12 Other associated findings: alopecia, ectropion,hypOhydrosis

Question 29

Congenital ichthyosiform erythroderma (CIE) treatment

Answer 29

Eat, drink, avoid overheating | emollient, keratolytics, retinoids

Question 30

``` Harlequin fetus Gene defect: Phenotype: Findings: Prognosis: ```

Answer 30

Gene defect: ABCA12 Phenotype: abnormal or missing lamellar granules .:. no lipid bilayer in stratum corneum Findings: ectropion, eclabium, deformaties, poor temp regulation Prognosis: stillborn or early death

Question 31

Sjogren-Larsson Syndrome Gene: Defect: Organs affected:

Answer 31

Gene: FALDH (fatty aldehyde dehydrogenase) Defect: defective conversion of fatty alcohol to acid, defective lipid metabolism Organs affected: skin, CNS, eyes

Question 32

Why Sjogren-Larsson Syndrome itchy?

Answer 32

accumulation of leukotriene B4

Question 33

Sjogren-Larsson Syndrome CNS defects

Answer 33

MR Spastic di-tetraplegia with scissor gait Speech deficits Epilepsy