Dermatological Diseases

People with this disease present with heat intolerance, fine/sparse hair, periocular wrinkling, mid face hypoplasia, abnormal nails, ano or hypodontia, cone-shaped teeth, xerostomia

Inherited disorder due to defect in keratin 
Bilateral thickened, white corrugated plaques of the buccal mucosa 
**Inherited so occurs earlier in life

Inherited disorder of keratinization that affects a tri-racial isolate 
Lesions develop during childhood
See thick, corrugated white plaques of the buccal and labial mucosa
also see thick gelatinous conjunctival plaques 

X-linked recessive disorder that has oral lesions that progress: bullae-->erosions-->leukoplakia (premalignant)-->30% develop into SCCa

This disease presents as reticulated hyper pigmented skin lesions, dystrophic nails, 8% develop aplastic anemia

AR disease that results in a defect in DNA repair
Patients are extremely sensitive to UV damage and are at a greater increased risk of cutaneous basal cell carcinomas and squamous cell carcinomas

High risk areas for damage done by Xeroderma Pigmentosum (2)

Inherited disease that results in mutated calcium levels
presents as erythematous, crusted skin papules, palmer and plantar keratosis, nail changes 
(V shaped notches in nails are characteristic)

Flat-topped papules of hard palate and alveolar mucosa (“cobblestone”)

Gene mutations linked to abnormal blood vessel development

Develop vascular malformations: telangiectasias, Epistaxis, GI bleeding, Lung AVMs predispose to brain abscesses
Oral lesions may be the first sign

Disease that presents as benign tumors of the CNS, heart, kidney and skin
CNS: Intellectual disability (30%), seizures (80%)
Cardiac rhabdomyoma,
Renal angiomyolipoma

What are the four most common skin lesions with tuberous sclerosis

4 Oral findings of tuberous sclerosis

Inherited disorder that comes with an increased risk of breast (50%), thyroid and GI cancers
Associated with facial trichilemmomonas and acral keratosis 
Assosciated with pink papillose of gingiva, tongue and buccal mucoa

Benign condition of unknown cause 
Multiple, demarcated, atrophic patches with slightly elevated yellowish-white scalloped margins (interrupted boarders are important features of geographic tongue)

may be associated with geographic tongue

Most common places to see geographic tongue (4)

Treatment for EM?

Skin disease associated with 
Increased proliferative activity of keratinocytes
Shows symmetrical, well-demarcted, erythematous plaques with silvery scales 
Positive auspitz's sign

Oral lesions associated with this diseases present as the following:
uncommon and non-specific
activity must parallel that of the skin lesions (look very erythematous)

Most common "collagen vascular disease" in the US

Subset of LE that manifests as: 
multisysem disease, photosensitive malar rash,  and non-specific, lichenoid, ulcerative lesions and desquamative gingivitis

Subset of LE that manifests as: 
lesions that are limited to the skin and mucosa
Oral lesions identical to erosive lichen planus

Subset of LE that manifests as: 
intermediate between SLE and discoid lupus
Skin lesions are the most prominent (less scarring)
oral lesions similar to discoid 
May have arthritis and musculoskeletal involvement

Autoimmune disease characterized by dense deposition of collagen in various organs and tissues 
Skin changes: raynaud's phenomenon, ulcerations of the fingertips, acro-osteolysis, sclerodactylyl, mask-liked pinched ale of  nose

4 oral manifestations of scleroderma

Radiographic findings in which disease?
Diffuse widening of the PDL
Resorption of the posterior ramus of the mandible, coronoid, condyle
Individual tooth resorption

Crest syndrome is a mild variant of systemic sclerosis. What does CREST stand for?