Hereditary intestinal

Polyposis Syndrome

Autosomal dominant, single pleotropic gene w/ high degree of penetrance LKB1 (encodes for serine/threonine kinase)

50% familial history, 35% spontaneous mutation

affects 1/120,000

Mucocutaneous pigmentation 90%: hairless melanotic macules on lips, buccal mucosa, gingiva, face, perianal and extremities

GI: multiple hamartomatous polyps

Respiratory system: may have polyps in nose and bronchioles

GU: benign ovarian sex-cord stromal tumors and polyps of bladder and ureter may occur

Manage complications: recurrent colicky abdominal pain, hemorrhage, obstruction and infarction due to intusussusception

Prognosis: GI carcinoma 2-3%; facial pigmentation may face, but oral persists

(At least 25 diff types including:)

- Hereditary: Epidermolytic (EB simplex), Lamina lucidolytic (junctional), Dermolytic (dystrophic) - cutaneous squamous cell carcinoma, oral lesions most common

- Acquired epidermolysis bullosa

Direct immunofluorescence - No

Indirect (circulating antibodies) - No

-i.e. can't use either one for hereditary

Direct - IgG (sub BMZ)

Indirect (circulating antibodies) - Yes

Skin: blisters, scarring

Oral: ulcerations, blisters, microstomia

Dental: anodontia, enamel hypoplasia, neonatal teeth, dental caries

Symptomatic, avoid trauma, wound care; genetic counseling

Variable;cutaneous SCCA w/ recessive dystrophic forms

-AKA Benign migratory glossitis or geographic tongue

Affects 1-3% of population

involves dorsum of tongue, although it can occur on any intraoral mucosal surface

More common females 2:1 males

Etiology: unknown possible hereditary and/or due to hypersensitivity to env factors

- Sensitivity to hot or spicy food

- Often occurs w/ fissured tongue

- May occur w/ migratory stomatitis - foci of erythema migrans on buccal mucosa, lips and/or soft palate

A small percentage of people experience constant burning or pain

- Occurs w/ increased freq in individuals w/ allergies and eczema

- Predisposing factors include psoriasis, inflammatory bowel diseas, anemia, allergies, and zinc deficiency

May represent a hypersensitivity reaction (often to food or food additive)

It may be associated w/ onset of systemic disease (psoriasis, inflammatory bowel diseas, anemia, zinc deficiency - rare)

Excellent, completely benign condition

No treatment needed unless symptomatic

Chronic, non-curable condition

May be characterized by remission and exacerbation throughout life

30-70% associated with HSV

Association w/ HLA-B62 (same group that experiences HSV recurrences)

Drugs, infections, idiopathic

Cinnamon

Recurrences triggered by HSV in 30-70% of cases; some cases Mycoplasma pneumonia

3m:1f

Adolescents and young adults

Acute, inflammatory mucocutaneous disease, may be chronic

Very painful oral mucosal lesions

Crusted lips

Fever, joint pain

Skin-target lesions

Usually self-limiting, may last 4-6 weeks

May be recurrent

Rarely chronic

Rare variant: stevens-johnson syndrome (often requires hospitalization & may be life-threatening)

Autoimmune disease of unknown etiology (Viral infection? Sensitizing drugs such as hydralazine (antihypertensive))

Relatively common

Increased incidence in young and middle aged women

Diagnosis: clinical and laboratory findings

- Discoid skin rash, scarring alopecia 80%

- Neurological disorder - cerebral lupus, immune complexes caught in blood vessels caus occlusion, seizures

- Malar skin rash - butterfly rash

- Skin rash: vasculitis

- Skin photosensitivity

- Oral ulcerations 20%

Serosal inflammation

Evidence of immunological disorder

Presence of antinuclear antibody (anti-dsDNA most freq detected; anti-ssDNA; anti-DNA-histone common in drug-induced SLE)

Normocytic hypochromic anemia, thrombocytopenia, hemolytic anemia, thrombophlebitis

Arthritis

Osteoporosis and avascular necrosis

Myalgia

Photosensitive-avoid sunlight

Corticosteroids and other immunosuppressive agents

Hydroxychloroquine (Plaquenil)

95% 5 yr survival rate

75% 15 yr survival rate --> renal failure

Requires biopsy w/ histologic diagnosis to establish diagnosis prior to treatment

May require immunohistochemical diagnosis

Most often diagnosed histologically

82% female avg age 58

18% male avg age 62

Histopathology (formalin) 67% -- subepithelial split

Direct immunofluorescence 87% (Michel's solution) -- direct linear IgG and C3 at BMZ 80%; indirect uncommon

Dry mouth: OH, CHX, sialogogues

Caries: Fl, diet, GI

Gingivitis: OH, CHX

Candidiasis

Microsomia: isometric exercises