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Neville and Damm > Chapter 16-Derm Dz 1 > Flashcards

Chapter 16-Derm Dz 1 Flashcards

1
Q

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

A

Ectodermal dysplasia

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2
Q

Ectodermal dysplasia prevalence

A

7:10,000

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3
Q

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

A

Hypohidrotic ectodermal syndrome
Xlinked
Xq12-q13.1

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4
Q

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

A

Lyon hypotheses

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5
Q

What are 5 clinical features of hypohidrotic ectodermal dysplasia?

A
  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
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6
Q

What are 2 alternate names for white sponge nevus?

A
  1. Cannon disease 2. familial white folded dysplasia
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7
Q

Inheritance pattern for white sponge nevus

A

autosomal dominant

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8
Q

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

A

keratin 4 and keratin 13 (in the spinous layer)

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9
Q

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

A

buccal mucosa…birth or early childhood

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10
Q

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

A

velvety or leathery

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11
Q

What is the pathognomonic histologic feature of WSN?

A

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

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12
Q

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

A

cytology with the papanicolaou method

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13
Q

Witkop-von sallmann syndrome is more commonly known as

A

hereditary benign intraepithelial dyskeratosis

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14
Q

HBID inheritance pattern

A

autosomal dominant

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15
Q

what very specific geographic area is hereditary benign intraepithelial dyskeratosis

A

north carolina (come on and raise up)

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16
Q

2 main features of HBID

A
  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
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17
Q

2 histologic buzz phrases of HBID

A
  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
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18
Q

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

A

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

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19
Q

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

A

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

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20
Q

Prevalence of pachyonychia congenita

A

5000-10,000 people in the world

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21
Q

Oral presentation in pachyonychia congenita

A

thickened white plaques involving the lateral margins and dorsal tongue

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22
Q

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

A

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

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23
Q

3 systemic findings in pachyonychia congenita

A

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

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24
Q

Gender predilection and inheritance pattern in dyskeratosis congenita

A

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

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25
Q

mutation associated with dyskeratosis congenita? What enzyme is affected?

A

DKC1 gene- disrupts the normal maintenance of telomerase

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26
Q

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

A

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)

27
Q

Features of the oral lesions of dyskeratosis congenita

A

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

28
Q

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

A

1/3

29
Q

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

A

reticular pattern of the skin

hyperpigmentation affecting the face, neck and upper chest

30
Q

Numerous cutaneous malignancies developing at an early age is characteristic of

A

xeroderma pigmentosum

31
Q

Inheritance pattern of xeroderma pigmentosum

A

autosomal recessive

32
Q

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

A

10,000x

33
Q

XP: Early childhood: actinic keratoses

Quickly progress to BCC or SCC usually by what age?

A

within the first decade of life

34
Q

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

A

30 years shorter than average…cosanguinous breeding

35
Q
  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?
A

Hereditary mucoepithelial dysplasia…sporatic or AD

36
Q

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

A

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

37
Q

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

A

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

38
Q

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

A

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

39
Q

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

A
  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
40
Q

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

A

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

41
Q

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

A

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

42
Q

3 Other names for Darier disease

A

keratosis follicularis, dyskeratosis follicularis, darier-white disease

43
Q

Inheritance pattern for darier disease

A

auto dom

44
Q

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

A

ATP2A2

SERCA2

45
Q

Prevalence darier disease in northern europeans

A

1:36,000-100,000

46
Q

skin lesions of darier disease clinical appearance (4 descriptors)

A

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

47
Q

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

A

darier disease

48
Q

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

A

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

49
Q

darier disease histo buzzwords (3)

A

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

50
Q

are the lesions of darier disease premalignant?

A

no

51
Q

What is an isolated lesion of darier disease termed?

A

warty dyskeratoma

52
Q

most common location for intraoral warty dyskeratoma

A

hard palate and alveolar ridge

53
Q

Gender and age group for warty dyskeratoma

A

slight male predomiance middle aged

54
Q

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

A
  • corps ronds and grains are not prominent in warty dyskeratoma
  • basilar hyperplasia and suprabasilar clefting in warty dyskeratoma
55
Q

malignant potential for warty dyskeratoma?

A

nope

56
Q

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

A

x-linked and recessive…32 years

57
Q

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

A

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

58
Q

What are the 5 findings in Hereditary mucoepithelial dysplasia?

A
  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
59
Q

Incontinentia Pigmenti - Gene locus and affected gene?

A

Xq28…NEMO (NFkB Essential MOdulator)

60
Q

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

A

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

61
Q

What are the 3 alternate names for Darier Disease?

A

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

62
Q

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

A
  1. Isolated Darier Disease 2. Isolated Dyskeratosis Follicularis 3. Focal acantholytic dyskeratosis 4.Follicular dyskeratoma
63
Q

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

A

Keratosis follicularis

64
Q

What are the two alternate names for Dyskeratosis Congenita?

A

Cole-Engman Syndrome and Zinsser-Cole-Engman Syndrome

Neville and Damm (72 decks)

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