Chapter 16-Derm Dz 1 Flashcards
Group of inherited disorders defined by the failure to develop 2 or more ectodermally derived anatomic structures
Ectodermal dysplasia
Ectodermal dysplasia prevalence
7:10,000
The most well known ectodermal dysplasia syndrome is _____ _____? also….whats the inheritance pattern? molecular alteration?
Hypohidrotic ectodermal syndrome
Xlinked
Xq12-q13.1
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
Lyon hypotheses
What are 5 clinical features of hypohidrotic ectodermal dysplasia?
- Heat intolerance due to reduced eccrine glands
- 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 - 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
What are 2 alternate names for white sponge nevus?
- Cannon disease 2. familial white folded dysplasia
Inheritance pattern for white sponge nevus
autosomal dominant
Out of the 30 keratin filaments, which 2 proliferate in white sponge nevus?
keratin 4 and keratin 13 (in the spinous layer)
Most frequently affected site for WSN? When do the lesions appear?
buccal mucosa…birth or early childhood
What clinical terms are frequently used to describe the lesions of white sponge nevus
velvety or leathery
What is the pathognomonic histologic feature of WSN?
perinuclear condensation of keratin tonofilaments (superficial layers of the epithelium)
What type of test could you do to confirm WSN rather than a traditional biopsy
cytology with the papanicolaou method
Witkop-von sallmann syndrome is more commonly known as
hereditary benign intraepithelial dyskeratosis
HBID inheritance pattern
autosomal dominant
what very specific geographic area is hereditary benign intraepithelial dyskeratosis
north carolina (come on and raise up)
2 main features of HBID
- oral lesions that look like white sponge nevus and leukoedema
- thick opaque gelatinous plaques affecting the bulbar conjunctiva, plaques are more apparent seasonally, risk for blindness when the plaques are shedding
2 histologic buzz phrases of HBID
- dyskeratotic cells throughout the spinous layer of the epithelium (similar to darier disease)
- cell within a cell phenomenon: epithelial cells appears engulfed by adjacent epithelial cell
Pachyonychia (pack-e-o-nick-ia) congenita inheritance pattern and 2 alternate names (are you ready for this shit?)
autosomal dominant….1) Jadassohn-Lewandowsky (Type 1) 2) Jackson - Lawler (Type 2)
4 mutated keratins associated with pachyonychia congenita? Which gene mutation is most common for ORAL lesions?
keratin 6A, 6b, 16 or 17……keratin 6a (KRT6A)
Prevalence of pachyonychia congenita
5000-10,000 people in the world
Oral presentation in pachyonychia congenita
thickened white plaques involving the lateral margins and dorsal tongue
neonatal teeth occur in the majority of pachyonychia congenita patients with mutation in which keratin?
keratin 17 (only 1/3 of these patients have the white plaques seen predominantly in patients with mutation in 6a)
3 systemic findings in pachyonychia congenita
1) hyperkeratosis of the plantar and palmar surfaces, dramatically affects the nails
2) hyperhidrosis of palms and feet
3) punctuate papules of the skin
Gender predilection and inheritance pattern in dyskeratosis congenita
male X-linked…(some cases of AD or AR too, but rare)
mutation associated with dyskeratosis congenita? What enzyme is affected?
DKC1 gene- disrupts the normal maintenance of telomerase
What 2 conditions are patients with dyskeratosis congenita more prone to?
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)
Features of the oral lesions of dyskeratosis congenita
start as bullae, rupture to form erosions and finally become leukoplakias which are PREMALIGNANT
___ of leukoplakias associated with dyskeratosis congenita become malignant in 10-30 years
1/3
Within the first ten years of life patients with dyskeratosis congenita develop what skin changes
reticular pattern of the skin
hyperpigmentation affecting the face, neck and upper chest
Numerous cutaneous malignancies developing at an early age is characteristic of
xeroderma pigmentosum
Inheritance pattern of xeroderma pigmentosum
autosomal recessive
In xeroderma pigmentosum patient develop of nonmelanoma skin cancer at _____higher rate
10,000x
XP: Early childhood: actinic keratoses
Quickly progress to BCC or SCC usually by what age?
within the first decade of life
Life expectancy in patients with XP? What is the most likely cause of XP?
30 years shorter than average…cosanguinous breeding
- 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?
Hereditary mucoepithelial dysplasia…sporatic or AD
Is there an increased risk of malignancy in hereditary mucoepithelial dysplasia?
No increased risk of malignant transformation; termed dysplasia because the mucosal epithelial cell do not develop properly
What does biopsy of the fiery red palatal lesion characteristic of hereditary mucoepithelial dysplasia show? (4)
Disorganized epithelial maturation pattern
Relatively high N:C ratio
No pleomorphism really
Cytoplasmic vacuoles with greyish inclusions
pattern of inheritance for incontinentia pigmenti? Gender predilection?….Also: alternate name?
X linked dominant *female predilection 37:1 because a single X with the condition is typically lethal…BLOCH-SULZBERGER syndrome
The 4 Clinical stages of skin lesions characteristic of incontinentia pigmenti:
- Vesicular stage: Vesiculobullous lesions on the skin of the trunk and limbs
Spontaneous resolution within 4 months - Verrucous stage: Verrucous cutaneous plaques on the limbs.Clear by 6 months of age
- Hyperpigmentation stage: Macular brown skin lesions with a swirling pattern. Fade with time
- Atrophy and depigmentation stage: Atrophy and depigmentation of the skin
What are the three main tissues(? not the best wording) affected by incontinentia pigmenti? What percent show CNS abnormalities?
1)CNS 2)EYE: strabismus, nystagmus, cataracts, etc 3)Oral….CNS: 30% (Intellectual disability, Seizures, Motor difficulties)
What percent range of patients with incontinentia pigmenti have oral manifestations? What are they? (3)
70-95% of pts….1) oligodontia (hypopdontia) 2)delayed eruption 3) hypoplasia of teeth / small CONE SHAPED teeth (primary and adult)
3 Other names for Darier disease
keratosis follicularis, dyskeratosis follicularis, darier-white disease
Inheritance pattern for darier disease
auto dom
Darier disease:
Mutation of gene ____
Encodes ______ an intracellular calcium pump
ATP2A2
SERCA2
Prevalence darier disease in northern europeans
1:36,000-100,000
skin lesions of darier disease clinical appearance (4 descriptors)
1 erythematous
2 pruritic papules of the skin of the trunk and scalp
3 rough texture
4 foul odor
What condition? pitting of palms and soles and nails with longitudinal lines, splits, ridges
darier disease
What percent range of patients with darier disease have oral/facial manifestations? What are the 2? What other oral conditions (2) does it mimic?
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
darier disease histo buzzwords (3)
1 “test tube rete ridges” 2) “corps ronds” or 3) “grains”
are the lesions of darier disease premalignant?
no
What is an isolated lesion of darier disease termed?
warty dyskeratoma
most common location for intraoral warty dyskeratoma
hard palate and alveolar ridge
Gender and age group for warty dyskeratoma
slight male predomiance middle aged
What is different histologically about warty dyskeratoma (isolated darier disease) compared to darier disease lesions
- corps ronds and grains are not prominent in warty dyskeratoma
- basilar hyperplasia and suprabasilar clefting in warty dyskeratoma
malignant potential for warty dyskeratoma?
nope
Which two inheritance patterns typically show more severe manifestations of dyskeratosis congenita? What is the average lifespan for more severely affected patients?
x-linked and recessive…32 years
XP: what are the first two oral sites to develop SCC most commonly?
1.lower lip 2. tip of the tongue (sun exposure)
What are the 5 findings in Hereditary mucoepithelial dysplasia?
- 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
Incontinentia Pigmenti - Gene locus and affected gene?
Xq28…NEMO (NFkB Essential MOdulator)
If a male is able to survive incontinentia pigmenti, what syndrome do they likely have?
XXY Kleinfelter Syndrome (since a single X would be lethal)
What are the 3 alternate names for Darier Disease?
1.Keratosis Follicularis 2.Dyskeratosis Follicularis 3.Darier-White Disease
LOL: What are the 4 alternate names for a warty dyskeratoma? (FML)
- Isolated Darier Disease 2. Isolated Dyskeratosis Follicularis 3. Focal acantholytic dyskeratosis 4.Follicular dyskeratoma
What other lesion does a warty dyskeratoma resemble histologically? (Besides an “isolated Dariers Disease”)
Keratosis follicularis
What are the two alternate names for Dyskeratosis Congenita?
Cole-Engman Syndrome and Zinsser-Cole-Engman Syndrome
