Dermatologic Diseases Flashcards
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
ectodermal dysplasia
M>F; heat intolerance; sparse hair, dystrophic nails; wrinkled, hyperpigmented periocular skin; midface hypoplasia, protuberant lips; oral: xerostomia, hypodontia with malformed crown shapes
ectodermal dysplasia
autosomal dominant genodermatosis caused by mutations in keratin genes 4 and 13; the defect results in abnormal keratinization of the mucosa
white sponge nevus
bilateral, thickened, white corrugated plaques primarily affecting the buccal mucosa; most mucosal sites are also susceptible
white sponge nevus
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%)
darier’s disease (keratosis follicularis)
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
darier’s disease
suprabasilar acantholysis; “test tube” rete ridges; central keratin plug; corps ronds and grains
darier’s disease
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
warty dyskeratoma
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
Peutz-Jeghers syndrome
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
Peutz-Jeghers syndrome
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)
peutz-jeghers
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
hereditary hemorrhagic telangiectasia
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
hereditary hemorrhagic telangiectasia
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
hereditary hemorrhagic telangiectasia
heterogeneous group of connective tissue disorders; probably 7 categories of this condition currently recognized; autosomal dominant, recessive, and X-linked patterns recognized
ehlers-danlos syndromes
_ type of Ehlers-Danlos: (abnormal type V collagen) hyperelasticity of skin; cutaneous fragility; papyraceous scarring
classical
_ type of Ehlers-Danlos: no evidence of scarring; joint hyperextensibility
hypermobility
_ type of Ehlers-Danlos: (abnormal type III collagen) bruising; arterial rupture
vascular
oral signs of _: gorlin sign; bruising and bleeding during minor manipulation; pulp stones
Ehlers-Danlos
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
Tuberous Sclerosis
seizure disorders and mental retardation; facial angiofibromas; ungual fibromas; CNS tumors (tubers); shagreen patches; ash-leaf spots; cardiac rhabdomyomas and angiomyolipomas
tuberous sclerosis
oral manifestations: enamel pitting; fibrous papules, primarily of the anterior gingiva; radiolucencies of the jaws
tuberous sclerosis
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
cowden syndrome
females- fibrocystic disease and breast cancer, GU tumors; GI polyps; multiple oral papules; high arched palate
cowden syndrome
two of the following for diagnosis of _: facial trichilemmomas, multiple oral papules; acral keratosis
cowden syndrome
heterogeneous group of inherited blistering mucocutaneous disorders; autosomal dominant or recessive patterns, as well as an acquired form
epidermolysis bullosa
_ epidermolysis bullosa: keratin gene defect
simple
_ epidermolysis bullosa: hemidesmosome defect
junctional
_ epidermolysis bullosa: collagen VII defect
dystrophic
_ _ form of epidermolysis bullosa: vesicles/bullae that become ulcers and erosions that heal with scarring; gingival erythema, recession and reduction in vestibular depth
dominant dystrophic
_ _ form of epidermolysis bullosa: much more serious; secondary infections; mitten deformity; microstomia; dental caries
recessive dystrophic
epidermolysis bullosa: _ (intraepithelial clefting)
simplex
epidermolysis bullosa: _ and _ ( subepithelial clefting (lamina lucida or lamina densa))
junctional and dystrophic
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
pemphigus vulgaris
> 50% present with oral lesions; ragged erosions and ulcerations; any oral mucosal surface; flaccid bullae on skin; oral blisters rarely seen; Nikolsky’s sign
pemphigus
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
paraneoplastic pemphigus
clinically resembles a number of conditions: erythema multiforme, pemphigus, lichen planus, pemphigoid; oral lesions: hemorrhagic crusting of lips, diffuse ulcerations
paraneoplastic pemphigus
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
paraneoplastic pemphigus
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
cicatricial pemphigoid
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
cicatricial pemphigoid
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
bullous pemphigoid
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
bullous pemphigoid
acute, self-limiting ulcerative disorder; probably immune-mediated; 50%- unknown; 25%-drugs (particularly antibiotics or analgesics); 25%- infection (herpes/Mycoplasma)
erythema multiforme
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
erythema multiforme
diffuse sloughing of the skin and mucosa; F>M; older patients
toxic epidermal necrolysis
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
geographic tongue
primarily affects the tongue, although any oral mucosal surface may be involved; typically asymptomatic; associated with fissured tongue; munro abcesses; psoriasiform mucositis
geographic tongue
Common chronic mucocutaneous disease; probably immune-mediated; may have only skin, only oral, or both; F>M; adults; skin lesions-purple, polygonal, pruritic papules
lichen planus
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
lichen planus
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
psoriasis
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
psoriasis
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)
lupus erythematosus
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%
systemic lupus erythematosus
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
chronic cutaneous lupus erythematosus
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
systemic sclerosis
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
systemic sclerosis
possibly a mild variant of systemic sclerosis; calcinosis cutis, raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia
crest syndrome
