Chapter 16-Derm Dz 1

Question 1

Group of inherited disorders defined by the failure to develop 2 or more ectodermally derived anatomic structures

Answer 1

Ectodermal dysplasia

Question 2

Ectodermal dysplasia prevalence

Answer 2

7:10,000

Question 3

The most well known ectodermal dysplasia syndrome is _____ _____? also….whats the inheritance pattern? molecular alteration?

Answer 3

Hypohidrotic ectodermal syndrome
Xlinked
Xq12-q13.1

Question 4

What is the term for the theory that females have a lesser phenotype (in hypohidrotic ectodermal syndrome) because half of the X chromosomes express the normal gene

Answer 4

Lyon hypotheses

Question 5

What are 5 clinical features of hypohidrotic ectodermal dysplasia?

Answer 5

1. Heat intolerance due to reduced eccrine glands
2. Fine sparse hair, fine wrinkling and hyperpigmentation around the eyes
   3.Midface hypoplasia → protuberant lip appearance
   4.Hypoplastic or absent salivary glands
   dystrophic/brittle nails
3. Teeth:
   a)Oligo or hypodontia- reduced number of teeth
   b) Incisor crowns: tapered or conical, pointed Molars: reduced in diameter
   c)Rarely anodontia: no teeth

Question 6

What are 2 alternate names for white sponge nevus?

Answer 6

1. Cannon disease 2. familial white folded dysplasia

Question 7

Inheritance pattern for white sponge nevus

Answer 7

autosomal dominant

Question 8

Out of the 30 keratin filaments, which 2 proliferate in white sponge nevus?

Answer 8

keratin 4 and keratin 13 (in the spinous layer)

Question 9

Most frequently affected site for WSN? When do the lesions appear?

Answer 9

buccal mucosa…birth or early childhood

Question 10

What clinical terms are frequently used to describe the lesions of white sponge nevus

Answer 10

velvety or leathery

Question 11

What is the pathognomonic histologic feature of WSN?

Answer 11

perinuclear condensation of keratin tonofilaments (superficial layers of the epithelium)

Question 12

What type of test could you do to confirm WSN rather than a traditional biopsy

Answer 12

cytology with the papanicolaou method

Question 13

Witkop-von sallmann syndrome is more commonly known as

Answer 13

hereditary benign intraepithelial dyskeratosis

Question 14

HBID inheritance pattern

Answer 14

autosomal dominant

Question 15

what very specific geographic area is hereditary benign intraepithelial dyskeratosis

Answer 15

north carolina (come on and raise up)

Question 16

2 main features of HBID

Answer 16

1. oral lesions that look like white sponge nevus and leukoedema
2. thick opaque gelatinous plaques affecting the bulbar conjunctiva, plaques are more apparent seasonally, risk for blindness when the plaques are shedding

Question 17

2 histologic buzz phrases of HBID

Answer 17

1. dyskeratotic cells throughout the spinous layer of the epithelium (similar to darier disease)
2. cell within a cell phenomenon: epithelial cells appears engulfed by adjacent epithelial cell

Question 18

Pachyonychia (pack-e-o-nick-ia) congenita inheritance pattern and 2 alternate names (are you ready for this shit?)

Answer 18

autosomal dominant….1) Jadassohn-Lewandowsky (Type 1) 2) Jackson - Lawler (Type 2)

Question 19

4 mutated keratins associated with pachyonychia congenita? Which gene mutation is most common for ORAL lesions?

Answer 19

keratin 6A, 6b, 16 or 17……keratin 6a (KRT6A)

Question 20

Prevalence of pachyonychia congenita

Answer 20

5000-10,000 people in the world

Question 21

Oral presentation in pachyonychia congenita

Answer 21

thickened white plaques involving the lateral margins and dorsal tongue

Question 22

neonatal teeth occur in the majority of pachyonychia congenita patients with mutation in which keratin?

Answer 22

keratin 17 (only 1/3 of these patients have the white plaques seen predominantly in patients with mutation in 6a)

Question 23

3 systemic findings in pachyonychia congenita

Answer 23

1) hyperkeratosis of the plantar and palmar surfaces, dramatically affects the nails
2) hyperhidrosis of palms and feet
3) punctuate papules of the skin

Question 24

Gender predilection and inheritance pattern in dyskeratosis congenita

Answer 24

male X-linked…(some cases of AD or AR too, but rare)

Question 25

mutation associated with dyskeratosis congenita? What enzyme is affected?

Answer 25

DKC1 gene- disrupts the normal maintenance of telomerase

Question 26

What 2 conditions are patients with dyskeratosis congenita more prone to?

Answer 26

1) aplastic anemia (80% of patients). First sign is thrombocytopenia by the second decade 2) malignant transformation of oral lesions (vs oral lesions of pachyonychia congenita there is NO increased risk of malig transformation)

Question 27

Features of the oral lesions of dyskeratosis congenita

Answer 27

start as bullae, rupture to form erosions and finally become leukoplakias which are PREMALIGNANT

Question 28

___ of leukoplakias associated with dyskeratosis congenita become malignant in 10-30 years

Answer 28

1/3

Question 29

Within the first ten years of life patients with dyskeratosis congenita develop what skin changes

Answer 29

reticular pattern of the skin | hyperpigmentation affecting the face, neck and upper chest

Question 30

Numerous cutaneous malignancies developing at an early age is characteristic of

Answer 30

xeroderma pigmentosum

Question 31

Inheritance pattern of xeroderma pigmentosum

Answer 31

autosomal recessive

Question 32

In xeroderma pigmentosum patient develop of nonmelanoma skin cancer at _____higher rate

Answer 32

10,000x

Question 33

XP: Early childhood: actinic keratoses | Quickly progress to BCC or SCC usually by what age?

Answer 33

within the first decade of life

Question 34

Life expectancy in patients with XP? What is the most likely cause of XP?

Answer 34

30 years shorter than average...cosanguinous breeding

Question 35

1. Sparse, coarse hair, non-scarring alopecia 2.perineal rash, 3.cataracts in childhood, 4. pulmonary complications and 5. a FIERY RED LESION OF THE HARD PALATE is characteristic of what condition? What is the inheritance pattern?

Answer 35

Hereditary mucoepithelial dysplasia...sporatic or AD

Question 36

Is there an increased risk of malignancy in hereditary mucoepithelial dysplasia?

Answer 36

No increased risk of malignant transformation; termed dysplasia because the mucosal epithelial cell do not develop properly

Question 37

What does biopsy of the fiery red palatal lesion characteristic of hereditary mucoepithelial dysplasia show? (4)

Answer 37

Disorganized epithelial maturation pattern Relatively high N:C ratio No pleomorphism really Cytoplasmic vacuoles with greyish inclusions

Question 38

pattern of inheritance for incontinentia pigmenti? Gender predilection?....Also: alternate name?

Answer 38

X linked dominant *female predilection 37:1 because a single X with the condition is typically lethal...BLOCH-SULZBERGER syndrome

Question 39

The 4 Clinical stages of skin lesions characteristic of incontinentia pigmenti:

Answer 39

1. Vesicular stage: Vesiculobullous lesions on the skin of the trunk and limbs Spontaneous resolution within 4 months 2. Verrucous stage: Verrucous cutaneous plaques on the limbs.Clear by 6 months of age 3. Hyperpigmentation stage: Macular brown skin lesions with a swirling pattern. Fade with time 4. Atrophy and depigmentation stage: Atrophy and depigmentation of the skin

Question 40

What are the three main tissues(? not the best wording) affected by incontinentia pigmenti? What percent show CNS abnormalities?

Answer 40

1)CNS 2)EYE: strabismus, nystagmus, cataracts, etc 3)Oral....CNS: 30% (Intellectual disability, Seizures, Motor difficulties)

Question 41

What percent range of patients with incontinentia pigmenti have oral manifestations? What are they? (3)

Answer 41

70-95% of pts....1) oligodontia (hypopdontia) 2)delayed eruption 3) hypoplasia of teeth / small CONE SHAPED teeth (primary and adult)

Question 42

3 Other names for Darier disease

Answer 42

keratosis follicularis, dyskeratosis follicularis, darier-white disease

Question 43

Inheritance pattern for darier disease

Answer 43

auto dom

Question 44

Darier disease: Mutation of gene ____ Encodes ______ an intracellular calcium pump

Answer 44

ATP2A2 | SERCA2

Question 45

Prevalence darier disease in northern europeans

Answer 45

1:36,000-100,000

Question 46

skin lesions of darier disease clinical appearance (4 descriptors)

Answer 46

1 erythematous 2 pruritic papules of the skin of the trunk and scalp 3 rough texture 4 foul odor

Question 47

What condition? pitting of palms and soles and nails with longitudinal lines, splits, ridges

Answer 47

darier disease

Question 48

What percent range of patients with darier disease have oral/facial manifestations? What are the 2? What other oral conditions (2) does it mimic?

Answer 48

15-50%..... 1) *multiple normal to white colored papules, particularly the alveolar mucosa, buccal mucosa and tongue ("cobblestone") RESEMBLE: inflammatory papillary hyperplasia, nicotinic stomatits 2) *recurrent obstructive parotid swelling caused by duct abnormalities

Question 49

darier disease histo buzzwords (3)

Answer 49

1 "test tube rete ridges" 2) "corps ronds" or 3) "grains"

Question 50

are the lesions of darier disease premalignant?

Answer 50

no

Question 51

What is an isolated lesion of darier disease termed?

Answer 51

warty dyskeratoma

Question 52

most common location for intraoral warty dyskeratoma

Answer 52

hard palate and alveolar ridge

Question 53

Gender and age group for warty dyskeratoma

Answer 53

slight male predomiance middle aged

Question 54

What is different histologically about warty dyskeratoma (isolated darier disease) compared to darier disease lesions

Answer 54

- corps ronds and grains are not prominent in warty dyskeratoma - basilar hyperplasia and suprabasilar clefting in warty dyskeratoma

Question 55

malignant potential for warty dyskeratoma?

Answer 55

nope

Question 56

Which two inheritance patterns typically show more severe manifestations of dyskeratosis congenita? What is the average lifespan for more severely affected patients?

Answer 56

x-linked and recessive...32 years

Question 57

XP: what are the first two oral sites to develop SCC most commonly?

Answer 57

1.lower lip 2. tip of the tongue (sun exposure)

Question 58

What are the 5 findings in Hereditary mucoepithelial dysplasia?

Answer 58

1. Sparse, coarse hair, non-scarring alopecia 2.perineal rash, 3.cataracts in childhood, 4. pulmonary complications and 5. a FIERY RED LESION OF THE HARD PALATE

Question 59

Incontinentia Pigmenti - Gene locus and affected gene?

Answer 59

Xq28...NEMO (NFkB Essential MOdulator)

Question 60

If a male is able to survive incontinentia pigmenti, what syndrome do they likely have?

Answer 60

XXY Kleinfelter Syndrome (since a single X would be lethal)

Question 61

What are the 3 alternate names for Darier Disease?

Answer 61

1.Keratosis Follicularis 2.Dyskeratosis Follicularis 3.Darier-White Disease

Question 62

LOL: What are the 4 alternate names for a warty dyskeratoma? (FML)

Answer 62

1. Isolated Darier Disease 2. Isolated Dyskeratosis Follicularis 3. Focal acantholytic dyskeratosis 4.Follicular dyskeratoma

Question 63

What other lesion does a warty dyskeratoma resemble histologically? (Besides an "isolated Dariers Disease")

Answer 63

Keratosis follicularis

Question 64

What are the two alternate names for Dyskeratosis Congenita?

Answer 64

Cole-Engman Syndrome and Zinsser-Cole-Engman Syndrome