Spitz 1a Ichthyoses Flashcards Preview

Misc Derm > Spitz 1a Ichthyoses > Flashcards

Flashcards in Spitz 1a Ichthyoses Deck (33):
1

*** are characterized by widespread distribution of skin scaling

Ichthyoses

2

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

Erythrokeratodermas

3

Retention hyperkeratosis, normal epidermal proliferation

Ichthyosis vulgaris

4

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

filaggrin

5

Ichthyosis vulgaris
Associated findings:
Inheritance:
Incidence:
Treatment:

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

6

icthyosis with "dirty neck" in infancy

X-linked ichthyosis

7

X-linked ichthyosis
Gene:
common PMH:

steroid sulfatase (STS)

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

8

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

lamellar bodies

9

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

cholesterol sulfate and DHEAS

10

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

***epidermal protease inhibitor

###retention

11

GU issue in X-linked ichthyosis

Cryotporchidism (20%)

12

increased risk of *** cancer

testicular (even if descended testes)

13

Why does labor fail to procress in Xlinked ichthyosis

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

14

Xlinked ichthyosis: what do female carriers show on PE?

comma shaped corneal opacities

15

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

Contiguous gene deletion syndromes (10%)

-Kallmann: MR, hypogonadism, anosmia

-XLR chondrodysplasia punctata

16

XLR Disorders

pneumonic
CHAD’S Kinky WIFE

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

17

ichthyosis with corrugated scale pattern

Epidermolytic hyperkeratosis (EHK)

(aka Bullous congenital ichthyosiform erythroderma )

18

Epidermolytic hyperkeratosis (EHK) is also known as

Bullous congenital ichthyosiform erythroderma

19

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

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

20

***: Shedding of stratum corneum  painful erosions

mausering

21

Mosaic variant of Epidermolytic hyperkeratosis (EHK)

ichthyosis hystrix

22

Presentation of Epidermolytic hyperkeratosis (EHK)

widespread bullae, erythroderma, mausering

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?

Ichthyosis bullosa of Siemens (AKA superficial epidermolytic ichthyosis)

24

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

Keratin 2e

25

Lamellar ichthyosis
Inheritance:
Gene mutation:
Phenotype:

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

26

Presentation of lamellar ichthyosis

colloidion baby without erythroderma

27

CIE

Congenital ichthyosiform erythroderma

28

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

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

29

Congenital ichthyosiform erythroderma (CIE) treatment

Eat, drink, avoid overheating
emollient, keratolytics, retinoids

30

Harlequin fetus
Gene defect:
Phenotype:
Findings:
Prognosis:

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

31

Sjogren-Larsson Syndrome
Gene:
Defect:
Organs affected:

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

32

Why Sjogren-Larsson Syndrome itchy?

accumulation of leukotriene B4

33

Sjogren-Larsson Syndrome CNS defects

MR
Spastic di-tetraplegia with scissor gait
Speech deficits
Epilepsy