Skin and Mucosal Diseases I Flashcards
what is ectodermal dysplasia and its inheritance pattern
- two or more ectodermally derived structures fail to develop
- hair, skin, nails, teeth, sweat glands, salivary glands are affected
- autosomal dominant, autosomal recessive, X- linked inheritance
what are the clinical features of ectodermal dysplasia
- hyphohidrotic ectodermal dysplasia - most common type
- 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 tx for exctodermal dysplasia
- genetic counseling
- prosthetic appliances
what is white sponge nevus, the inheritance pattern and the mutation
- defect in the normal keratinization of oral mucosa
- Autosomal dominant inheritance
- keratin 4, keratin 13 mutations
what are the clinical features of white sponge nevus
- usually appear at birth, early childhood
- symmetrical, thickened plaques
- white, corrugated appearance
- most common buccal mucosa bilaterally
- ventral tongue, labial mucosa, soft palate, alveolar mucosa, FOM
what is the tx for white sponge nevus
none
describe ehlers danlos syndrom
- CT 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 in 50% of patients
- type VIII- rare type, periodontal disease
what is the treatment for ehlers danlos syndrom
- depends on the subtype
- mild type: compatible with normal life span
what is the inheritance of peutz jeghers syndrome and the mutation
- autosomal dominant inheritance
- mutations in tumor suppressor gene STK11
what are the clinical features of peutz jeghers
- pigmented lesions on periorificial areas- mouth, nose, anus, genital region and extremities
- intestinal polys- may develop into adenocarcinoma
- increased frequency of other malignancies
- intraoral lesions: buccal mucosa, labial mucosa and tongue
what is the tx for peutz jeghers
patients should be monitored for tumor development
describe 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 tx for epidermolysis bullosa
- would care, antibiotics, surgery
- recommended noncariogenic soft food diet, atraumatic oral hygiene procedures
what is the histological appearance of epidermolysis bullosa
separation of epithelium and CT
describe Behcet syndrome and what is the genetic predisposition gene
- combination of chronic ocular inflammation, oro-genital ulcerations and systemic vasculitis
- abnormal immune process triggered by an infectious or environmental antigen
- genetic predisposition- HLAB51
what are the clinical features of behcet syndrom
- MC in 3rd or 4th decade
- increased prevalance in males
- most patients have oral ulcerations
- ulcerations may appear similar to aphthous stomatitis as they are usually surrounded by a larger area of erythema
- genital lesions: irregular ulcerations
what is the vascular disease component in behcets
veins affected more frequently - inflammation and thrombi
what is the cutaneous lesion involvement in behcets
erythematous papules, vesicles, and pustules
what is the ocular involvement in behcets disease
uveitis, conjunctivitis, corneal ulceration, arteritis
- blindness in 25% of patients
what is the CNS involvement in Behcets
paralysis and dementia
what is the tx for behcets
systemic meds such as corticosteroids and immunosuppressants
what is reactive arthritis, the genetic predisposition and another name for it
- likely an immunologically mediated disease triggered by an infectious agent
- genetic predisposition: HLA- B27
- Reiter syndrome
what are the clinical features of reactive arthritis
- prevalent in young adult men
- triad: urethritis, arthritis, conjunctivitis
what is often the first sign of reactive arthritis
urethritis
what joints are affected in reactive arthritis
joints of lower extremities
what are the clinical features of reactive arthritis
- oral: erythematous papules, shallow ulcers
- tongue, buccal mucosa, palate, gingiva
- skin lesions on penis- balantitis circinata- similar appearance to geographic tongue
what is the tx for reactive arthritis
NSAIDS for managing arthritis, corticosteroids, immunosuppressants
describe 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 2-3rd 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 of surface
- lesions improve during summer and worsen during the winter
what is the tx for psoriasis
topical corticosteroids for moderate involvement
what is lupus erythematous
- immune mediated condition
- common CT disease in the US
what are the two types of lupus erythematous and describe each
- systemic lupus erythematous (SLE): multisystem disease affected solid organs, cutaneous and oral manifestation
- chronic cutaneous lupus erythematosus (CCLE): primarily affects skin and oral mucosa
what are the clinical features of lupus
- females: 8-10x more common
- most common dx in 4th decade
- fever, weight loss, arthritis, fatigue
- butterfly rash over malar area and nose in 40-50% of patients
- sunlight may exacerbate lesion
what are the clinical features of SLE
- kidneys affected in 40-50% of patients- may lead to kidney failure
- cardiac involvement- endocarditis
- oral lesions: may appear lichenoid, erythema, ulcerations, often nonspecific on palate, buccal mucosa, lips, gingiva
what are the clinical features of CCLE
- few or no systemic signs or symptoms
- lesions limited to skin or mucosal surfaces
- skin lesion: scaly, erythemaous patches- sun exposed skin
- oral lesions: lichenoid appearance. rarely occur in absence of skin lesions
what is the dx for lupus
antibodies directed against double stranded DNA in 70% SLE patients
what is the tx for lupus
- avoid excessive sunlight exposure
- mild cases may be managed with NSAIDS
- severe cases: systemic corticosteroids, immunosuppressive medications
- prognosis depends on organs affected
describe angioedema
- diffuse, edematous swelling of soft tissue
- involves subcutaneous and submucosal CT
- most common cause: mast cell degeneration -> histamine release
- IgE- mediated hypersensitivity to drugs, foods, plants, dusts
- alternative mechanism: ACE inhibitors in 0.1-0.2% of users - excess bradykinin
what are the clinial features of angioedema
- rapid onset of soft, nontender, tissue swelling
- most common in extremities, also face, neck, trunk and genitals
- ACE- inhibitor associated angioedema frequently affects head and neck such as face, lips, tongue, FOM, pharnyx, and larynx , 3-4x in black patients
what is the dx and tx for angioedema
- dx: clinical presentation and determination of antigenic stimulus
- tx: allergic: oral antihistamine therapy or ACE inhibitor: avoid all medications in drug class
what is the diff dx for white sponge nevus
- cheek chewing
- leukoedema
- lichen planus
- candidiasis
does white sponge nevus dissappear when stretched
no
is white sponge nevus more localized or diffuse
diffuse never localized
epidermolysis bullosa histology looks similar to:
pemphigoid
what is the #1 differential for behcets disease
reactive arthritis
what is the most common form of angioedema that dentists will see
ACE inhibitor associated angioedema
