Skin and Mucosal Diseases part 1 Flashcards
What is ectodermal dysplasia?
- Two or more ectodermally derived structures fail to develop
— Hair, skin, nails, teeth, sweat glands, salivary glands
What is the inheritance of ectodermal dysplasia?
- AD, AR, X-linked inheritance
What are the clinical features of ectoderml dysplasia?
Hypohidrotic ectodermal dysplasia:
- Male predominance
- Reduced number of sweat glands → cannot regulate heat
- Sparse hair, reduced eyebrows, eyelashes
- Salivary glands may be hypoplastic or absent
- Teeth – hypodontia, abnormal shape
What is the treatment for ectodermal dysplasia?
genetic counseling, prosthetic appliances
ectodermal dysplasia
What is white sponge nevus?
- Defect in the normal keratinization of oral mucosa
- Keratin 4, Keratin 13 mutations
What is the inheritance of white sponge nevus?
AD inheritance
autosomal dominant
What are the clinical features of white sponge nevus?
- Usually appear at birth, early childhood
- Symmetrical, thickened plaques
- White, corrugated appearance
- MC buccal mucosa bilaterally
- Ventral tongue, labial mucosa, soft palate, alveolar mucosa, FOM
What is the treatment for white sponge nevus?
none
white sponge nevus
What are the differential diagnoses for white sponge nevus?
- cheek chewing
- leukoedema
- lichen planus
- candidiasis
white sponge nevus
What is this unique histology show and what disease is it for?
perinuclear condensation of keratin tonofilaments
- white sponge nevus
What is ehlers-danlos syndrome?
- Connective tissue disorder, production of abnormal collagen
- Many genes involved
What are the clinical features of Ehlers-danlos syndrome?
- Hyperelasticity of the skin, cutaneous fragility
- Hypermobility of joints – remarkable flexibility
- Patients may bruise easily
- Gorlin sign: touch the tip of the nose with tongue! (50% of patients)
- Type VIII – rare type, periodontal disease
What type of Ehlers-danlos syndrome has periodontal disease (especially at a young age)?
type VIII
What is the treatment for Ehlers-danlos syndrome?
Depends on subtype
- Mild type: compatible with normal life span
Ehlers-Danlos syndrome
What is this called and what disease is associated with it?
papyraceous scarring
- Ehlers-danlos syndrome
What is Peutz-Jeghers syndrome?
Mutations in tumor-suppressor gene – STK11
What is the inheritance of Peutz-Jeghers syndrome?
AD inheritance
What are the clinical features of Peutz-Jeghers syndrome?
- Pigmented lesions on periorificial areas (mouth, nose, anus, genital region) and extremities
- Intestinal polyps – may develop into adenocarcinoma
- Increased frequency of other malignancies
- Intraoral lesions: buccal mucosa, labial mucosa, tongue
What is the treatment for Peutz-Jeghers syndrome?
patients should be monitored for tumor development
Peutz-Jeghers syndrome
What are these and what disease can lead to them?
intestinal polps
- Peutz-Jeghers syndrome
these could lead to adenocarcinoma
What is Epidermolysis Bullosa?
- Mucocutaneous disease, several types
- Genetic mutation
- Defect in attachment mechanisms of epithelial cells
What are the clinical features of epidermolysis bullosa?
- Vesicles and bullae develop from low-grade trauma
- Result in erosions and ulcerations that cause scarring
- Minor forms and severe forms
- Oral: gingival erythema, recession, loss of vestibule depth
What is the treatment for epidermolysis bullosa?
wound care, antibiotics, surgery
- Recommend noncariogenic diet (soft foods), atraumatic oral hygiene procedures
epidermolysis bullosa
What does this show and what disease is associated with it?
separation of epidermis and dermis (blister formation)
- epidermolysis bullosa
What disease is very similar to epidermolysis bullosa in terms of histology?
Pemphigoid
epidermolysis bullosa
What is Behcet syndrome?
- Combination of chronic ocular inflammation, oro-genital ulcerations, and systemic vasculitis
- Abnormal immune process triggered by an infectious or environmental antigen
- Genetic predisposition – HLA-B51
Behcet syndrome is associated with HLA…
HLA-B51
What are the clinical features of Behcet syndrome?
- MC 3rd and 4th decade
- Increased prevalence in males
- Most patients have oral ulcerations
- Ulcerations may appear similar to aphthous stomatitis
— Usually surrounded by a larger area of erythema - Genital lesions: irregular ulcerations
- Vascular disease: veins affected more frequently – inflammation, thrombi
- Cutaneous lesions: erythematous papules, vesicles, pustules
- Ocular involvement: uveitis, conjunctivitis, corneal ulceration, arteritis
- Blindness occurs in 25% patients
- CNS involvement: includes paralysis and dementia
What is the treatment for Behcet syndrome?
may require systemic meds (corticosteroids, immunosuppressants)
Can you identify if a patient has Behcet syndrome just from looking at the ulceration?
NO
- look at patient’s history
- refer
What is reactive arthritis (reiter syndrome)?
- Likely an immunologically mediated disease, triggered by an infectious agent
- Genetic predisposition – HLA-B27
Reactive arthritis (reiter syndrome) is associated with HLA…
HLA-B27
What are the clinical features of Reactive arthritis (reiter syndrome)?
- Prevalent in young adult men
- Triad:
— Urethritis (often first sign)
— Conjunctivitis
— Arthritis (usually affects joints of lower extremities) - Oral: erythematous papules, shallow ulcers
- Tongue, buccal mucosa, palate, gingiva
- Skin lesions on penis – balanitis circinata:
— Similar appearance to geographic tongue
What is the triad associated with reactive arthritis (reiter syndrome)?
- Urethritis
- Conjunctivitis
- Arthritis –usually affects joints of lower extremities
can’t pee, can’t see, can’t climb a tree
What skin lesion on the penis has a similar appearance to geographic tongue? What disease is this linked to?
balanitis circinata
- Reactive Arthritis (reiter syndrome)
What is treatment for Reactive Arthritis (reiter syndrome)?
NSAIDS for managing arthritis, corticosteroids, immunosuppressants
Reactive Arthritis (reiter syndrome)
What is psoriasis?
- Chronic skin disease, affects 2% of US population
- Increased proliferative activity of cutaneous keratinocytes
- Genetic and environmental factors may play a role
- Prevalence of erythema migrans appears to be higher than general population
What are the clinical features of psoriasis?
- Onset during 2nd-3rd decade
- Persists for years, with periods of exacerbation and inactivity
- MC on scalp, elbows, knees – often symmetrically distributed
- Well-demarcated, erythematous plaque with silvery scale on surface
- Lesions improve during summer and worsen during the winter
- geographic tongue is more often associated than the average population
What is the treatment for psoriasis?
topical corticosteroids for moderate involvement
psoriasis
What is lupus erythematosus?
- Immune mediated condition
- Common connective tissue disease in the US
What are the types of lupus erthematosus?
- Systemic lupus erythematosus (SLE): multisystem disease: solid organs, cutaneous and oral manifestation
- Chronic cutaneous lupus erythematosus (CCLE): primarily affects skin and oral mucosa
What are the clinical features of lupus erthematosus (SLE)?
- Females: 8-10x more common
- MC diagnosis in 4th decade
- Fever, weight loss, arthritis, fatigue
- Butterfly rash (erythematous rash) over malar area and nose (40-50% patients)
—Sunlight may exacerbate lesion - Kidneys affected (40-50% patients) – may lead to kidney failure
- Cardiac involvement - endocarditis
- Oral lesions: may appear lichenoid, erythema and ulcerations may be present
— often nonspecific
— palate, buccal mucosa, lips, gingiva
What are the clinical features of lupus erthematosus (CCLE)?
- Few or no systemic signs or symptoms
- Lesions limited to skin or mucosal surfaces
- Skin lesion: scaly, erythematous patches (sun-exposed skin)
- Oral lesions: lichenoid appearance
- Rarely occur in absence of skin lesions
How is lupus diagnosed?
Antibodies directed against double-stranded DNA (70% SLE patients)
What is the treatment for lupus?
- Avoid excessive sunlight exposure
- Mild cases may be managed with NSAIDS
- Severe cases: systemic corticosteroids, immunosuppressive medications
- Prognosis depends on organs affected
lupus erythematosus
lupus erythematosus
What is angioedema?
- Diffuse, edematous swelling of soft tissue
- involves subcutaneous and submucosal connective tissue
caused by…
- MC cause: mast cell degranulation → histamine release
- IgE-mediated hypersensitivity (drugs, foods, plants, dusts)
- Alternative mechanism: ACE inhibitors (0.1 – 0.2%)
— Excess bradykinin
What are the clinical features of angioedema?
- Rapid onset of soft, nontender tissue swelling
- MC in extremities, also face, neck, trunk, genitals
- ACE-inhibitor associated angioedema: frequently affects H&N
— Face, lips, tongue, FOM, pharynx, larynx
— 3-4x Black patients
How is angioedema diagnosed?
Clinical presentation and determination of antigenic stimulus
What is the treatment for angioedema?
- Allergic: oral antihistamine therapy
- ACE-inhibitor: avoid all medications in drug class
angioedema
