Dermatologic Diseases

Question 1

hereditary condition of defective ectodermal development; over 170 subtypes, with the best known being hypohidrotic ectodermal dysplasia (X-linked); autosomal dominant and recessive forms are also present

Answer 1

ectodermal dysplasia

Question 2

M>F; heat intolerance; sparse hair, dystrophic nails; wrinkled, hyperpigmented periocular skin; midface hypoplasia, protuberant lips; oral: xerostomia, hypodontia with malformed crown shapes

Answer 2

ectodermal dysplasia

Question 3

autosomal dominant genodermatosis caused by mutations in keratin genes 4 and 13; the defect results in abnormal keratinization of the mucosa

Answer 3

white sponge nevus

Question 4

bilateral, thickened, white corrugated plaques primarily affecting the buccal mucosa; most mucosal sites are also susceptible

Answer 4

white sponge nevus

Question 5

autosomal dominant genodermatosis characterized by a lack of cohesion among the surface epithelial cells; mutation affects the integrity of the desmosomal complex; oral involvement is much more subtle or absent (15-50%)

Answer 5

darier’s disease (keratosis follicularis)

Question 6

erythematous, pruritic papules of the skin; pits and keratoses of the palms and soles; nails that feature longitudinal lines, ridges, or splits; oral lesions: multiple normal to white flat-topped papules; frequently seen on the palate or alveolar mucosa

Answer 6

darier’s disease

Question 7

suprabasilar acantholysis; “test tube” rete ridges; central keratin plug; corps ronds and grains

Answer 7

darier’s disease

Question 8

solitary lesion of unknown etiology; histologically similar to the lesions of Darier’s disease; M>F, older patients; solitary umbilicated papule of the head and neck; oral lesions are pink or white and primarily involve keratinized mucosa

Answer 8

warty dyskeratoma

Question 9

autosomal dominant condition caused by a defect in the LKB1 gene, which codes for a serine/threonine kinase; significance lies in the increased incidence of GI adenocarcinoma and other malignancies

Answer 9

Peutz-Jeghers syndrome

Question 10

periorificial and intraoral freckling; intestinal polyps with intussusception; similar freckling affects the skin of the extremities in about 50% of patients; lesions do not wax and wane with UV exposure; GI polyps- benign overgrowths of intestinal glandular epithelium

Answer 10

Peutz-Jeghers syndrome

Question 11

9% of patients will develop GI adenocarcinoma by 40 years of age; 33% by 60; overall 18-fold increased frequency of malignancy (breast, ovary, pancreas)

Answer 11

peutz-jeghers

Question 12

autosomal dominant condition caused by a mutation in the endoglin (HHT1) or ALK-1 (HHT2) genes; characterized by numerous vascular hamartomas of skin and mucosa

Answer 12

hereditary hemorrhagic telangiectasia

Question 13

numerous red papules which blanch upon diascopy; epistaxis; predisposition for arteriovenous fistulas of the lung, liver, and brain; superficial collections of thin-walled vascular channels

Answer 13

hereditary hemorrhagic telangiectasia

Question 14

any 3 of the following criteria leads to diagnosis of _: recurrent spontaneous epistaxis; telangiectasias of the mucosa and skin; arteriovenous malformation involving the lungs, liver, or CNS; family history of HHT

Answer 14

hereditary hemorrhagic telangiectasia

Question 15

heterogeneous group of connective tissue disorders; probably 7 categories of this condition currently recognized; autosomal dominant, recessive, and X-linked patterns recognized

Answer 15

ehlers-danlos syndromes

Question 16

_ type of Ehlers-Danlos: (abnormal type V collagen) hyperelasticity of skin; cutaneous fragility; papyraceous scarring

Answer 16

classical

Question 17

_ type of Ehlers-Danlos: no evidence of scarring; joint hyperextensibility

Answer 17

hypermobility

Question 18

_ type of Ehlers-Danlos: (abnormal type III collagen) bruising; arterial rupture

Answer 18

vascular

Question 19

oral signs of _: gorlin sign; bruising and bleeding during minor manipulation; pulp stones

Answer 19

Ehlers-Danlos

Question 20

uncommon autosomal dominant syndrome caused by a mutation of the TSC1 or TSC2 (most common) genes; these genes probably have a tumor suppressor function; TSC2 mutation tend to have more severe expressions than TSC1

Answer 20

Tuberous Sclerosis

Question 21

seizure disorders and mental retardation; facial angiofibromas; ungual fibromas; CNS tumors (tubers); shagreen patches; ash-leaf spots; cardiac rhabdomyomas and angiomyolipomas

Answer 21

tuberous sclerosis

Question 22

oral manifestations: enamel pitting; fibrous papules, primarily of the anterior gingiva; radiolucencies of the jaws

Answer 22

tuberous sclerosis

Question 23

Rare autosomal dominant syndrome caused by a mutation of the PTEN gene; the gene acts as a tumor suppressor; trichilemmomas; acral keratosis; palmoplantar keratosis; hemangiomas, xanthomas, and lipomas

Answer 23

cowden syndrome

Question 24

females- fibrocystic disease and breast cancer, GU tumors; GI polyps; multiple oral papules; high arched palate

Answer 24

cowden syndrome

Question 25

two of the following for diagnosis of _: facial trichilemmomas, multiple oral papules; acral keratosis

Answer 25

cowden syndrome

Question 26

heterogeneous group of inherited blistering mucocutaneous disorders; autosomal dominant or recessive patterns, as well as an acquired form

Answer 26

epidermolysis bullosa

Question 27

_ epidermolysis bullosa: keratin gene defect

Answer 27

simple

Question 28

_ epidermolysis bullosa: hemidesmosome defect

Answer 28

junctional

Question 29

_ epidermolysis bullosa: collagen VII defect

Answer 29

dystrophic

Question 30

_ _ form of epidermolysis bullosa: vesicles/bullae that become ulcers and erosions that heal with scarring; gingival erythema, recession and reduction in vestibular depth

Answer 30

dominant dystrophic

Question 31

_ _ form of epidermolysis bullosa: much more serious; secondary infections; mitten deformity; microstomia; dental caries

Answer 31

recessive dystrophic

Question 32

epidermolysis bullosa: _ (intraepithelial clefting)

Answer 32

simplex

Question 33

epidermolysis bullosa: _ and _ ( subepithelial clefting (lamina lucida or lamina densa))

Answer 33

junctional and dystrophic

Question 34

autoimmune disorder characterized by antibodies directed against components of the epithelial desmosome complex; oral signs are often the first manifestations of the disease and the most difficult to resolve

Answer 34

pemphigus vulgaris

Question 35

>50% present with oral lesions; ragged erosions and ulcerations; any oral mucosal surface; flaccid bullae on skin; oral blisters rarely seen; Nikolsky's sign

Answer 35

pemphigus

Question 36

Serious vesiculobullous disorder affecting patients with neoplastic disease, typically a lymphoreticular malignancy (CLL and lymphoma); antibodies in response to the tumor probably cross react with components of the epithelial layer; cytotoxic T lymphocytes may also play a role in cutaneous and mucosal damage

Answer 36

paraneoplastic pemphigus

Question 37

clinically resembles a number of conditions: erythema multiforme, pemphigus, lichen planus, pemphigoid; oral lesions: hemorrhagic crusting of lips, diffuse ulcerations

Answer 37

paraneoplastic pemphigus

Question 38

lichenoid mucositis with subepithelial clefting; direct immunofluorescence- C3 and IgG granular/linear at BMZ or intercellular; indirect immunofluorescence- serum antibodies reactive to intercellular area of rat bladder epithelium; immunoprecipitation

Answer 38

paraneoplastic pemphigus

Question 39

group of autoimmune disease characterized by autoantibodies directed against one or more components of the basement membrane; clinically resembles pemphigus due to blister formation; about 2x more common than pempigus

Answer 39

cicatricial pemphigoid

Question 40

F>M, avg age 60; desquamative gingivitis; may see intact blisters intraorally; affects any mucosal surface, occasionally skin; scarring usually refers to conjunctival mucosa (symblepharon); entropian, trichiasis

Answer 40

cicatricial pemphigoid

Question 41

similar autoimmune condition to cicatricial pemphigoid, with a few distinct differences; positive DIF and indirect IF- BMZ; often resolves in 2-5 years; healing occurs without scarring; more likely to involve skin than oral mucosa

Answer 41

bullous pemphigoid

Question 42

M=F, 60-80 years; early pruritis may be an early symptom; skin- tense bullae which rupture, crust, and heal without scarring; oral - rare, bullae which rupture quickly

Answer 42

bullous pemphigoid

Question 43

acute, self-limiting ulcerative disorder; probably immune-mediated; 50%- unknown; 25%-drugs (particularly antibiotics or analgesics); 25%- infection (herpes/Mycoplasma)

Answer 43

erythema multiforme

Question 44

M>F; young adults; may experience prodrome; hemorrhagic crusting of lips; widespread oral ulcers with ragged margins; labial, buccal mucosa and tongue; "target" lesions of skin

Answer 44

erythema multiforme

Question 45

diffuse sloughing of the skin and mucosa; F>M; older patients

Answer 45

toxic epidermal necrolysis

Question 46

common condition of unknown etiology or pathogenesis; correlation with psoriasis is not well established; F>M; transient areas of erythema (papillary atrophy) with yellow-white serpentine borders

Answer 46

geographic tongue

Question 47

primarily affects the tongue, although any oral mucosal surface may be involved; typically asymptomatic; associated with fissured tongue; munro abcesses; psoriasiform mucositis

Answer 47

geographic tongue

Question 48

Common chronic mucocutaneous disease; probably immune-mediated; may have only skin, only oral, or both; F>M; adults; skin lesions-purple, polygonal, pruritic papules

Answer 48

lichen planus

Question 49

oral lesions-reticular or erosive; reticular-interlacing white lines, buccal mucosa; erosive- ulcers with erythema and white streaks; desquamative gingivitis may be seen; any oral mucosal site susceptible

Answer 49

lichen planus

Question 50

chronic skin disease characterized by an increase in the proliferative activity of keratinocytes, secondary to stimulation from activated T lymphocytes; probably involves both genetic and environmental factors

Answer 50

psoriasis

Question 51

2nd decade; waxing and waning course with lesions improving during the summer; scalp, elbows, knees; erythematous plaques with silvery scales; psoriatic arthritis; oral lesions are uncommon; munro abcesses

Answer 51

psoriasis

Question 52

immunologically mediated disease, involving both humoral and cell-mediated immunity; unknown etiology, probably involving both genetic and environmental factors; essentially two varieties-very different prognoses (systemic and chronic cutaneous)

Answer 52

lupus erythematosus

Question 53

W>M (8:1), 3rd to 4th decade; highly variable presentation; FUO, arthritis, weight loss, fatigue, renal failure; "butterfly rash" over malar region; Libman-Sacks endocarditis; Raynaud's phenomenon; oral ulcerations in 5-25%

Answer 53

systemic lupus erythematosus

Question 54

W>M (2:1); 4th decade; scaly, erythematous patches on face and scalp; exacerbated by sun exposure; resolve after months with hypo- or hyperpigmentation; oral lesions (10%) resemble erosive LP

Answer 54

chronic cutaneous lupus erythematosus

Question 55

rare, probably immunologically mediated deposition of collagen within the tissues; while the disease most notably affects the skin, almost all organs and tissues are involved

Answer 55

systemic sclerosis

Question 56

F>M; adults; skin changes often noted first; "purse string" mouth; acro-osteolysis; skin becomes hard with a smooth texture; "mouse facies"; raynauds phenomenon; dysphagia; radiograph shows diffuse widening of the PDL

Answer 56

systemic sclerosis

Question 57

possibly a mild variant of systemic sclerosis; calcinosis cutis, raynaud's phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia

Answer 57

crest syndrome