Skin and Mucosal Diseases I Flashcards
Ectodermal dysplasia
(2)
Two or more ectodermally derived structures fail to develop
- Hair, skin, nails, teeth, sweat glands, salivary glands
AD, AR, X-linked inheritance
Ectodermal dysplasia
Clinical features:
Hypohidrotic ectodermal dysplasia:
(5)
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
Ectodermal dysplasia
Treatment: (2)
genetic counseling, prosthetic appliances
White sponge nevus
Defect in
inheritance
mutations
the normal keratinization of oral mucosa
AD
Keratin 4, Keratin 13
White sponge nevus
Clinical features:
who
appearance
appearance
MC
where (5)
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
White sponge nevus
Treatment:
none
Ehlers-Danlos syndrome
(2)
Connective tissue disorder, production of abnormal collagen
Many genes involved
Ehlers-Danlos syndrome
Clinical features:
(5)
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
Ehlers-Danlos syndrome
Treatment: Depends on subtype
Mild type:
compatible with normal life span
Peutz-Jeghers syndrome
(2)
AD inheritance
Mutations in tumor-suppressor gene – STK11
Peutz-Jeghers syndrome
Clinical features:
(4)
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
Peutz-Jeghers syndrome
Treatment:
patients should be monitored for tumor development
Epidermolysis bullosa
(3)
Mucocutaneous disease, several types
Genetic mutation
Defect in attachment mechanisms of epithelial cells
Epidermolysis bullosa
Clinical features:
(3)
Vesicles and bullae develop from low-grade trauma
Result in erosions and ulcerations that cause scarring
Minor forms and severe forms
Epidermolysis bullosa
Oral: (3)
gingival erythema, recession, loss of vestibule depth
Epidermolysis bullosa
Treatment:
wound care, antibiotics, surgery
Recommend noncariogenic diet (soft foods), atraumatic oral hygiene
procedures
Behçet syndrome
(Behçet Disease)
Combination of (3)
Abnormal immune process triggered by
Genetic predisposition –
chronic ocular inflammation, oro-genital ulcerations, and
systemic vasculitis
an infectious or environmental antigen
HLA-B51
Behçet syndrome
(Behçet Disease)
Clinical features:
MC age
Increased prevalence in (gender)
Most patients have
Ulcerations may appear similar to
Usually surrounded by a
Genital lesions:
3rd and 4th decade
males
oral ulcerations
aphthous stomatitis
larger area of erythema
irregular ulcerations
Behçet syndrome
(Behçet Disease)
Clinical features:
Vascular disease:
Cutaneous lesions: (3)
Ocular involvement: (4)
Blindness occurs in –% patients
CNS involvement: includes (2)
veins affected more frequently – inflammation, thrombi
erythematous papules, vesicles, pustules
uveitis, conjunctivitis, corneal ulceration, arteritis
25
paralysis and dementia
Behçet syndrome
(Behçet Disease)
Treatment:
may require systemic meds (corticosteroids,
immunosuppressants)
Reactive Arthritis
Reiter syndrome
(2)
Likely an immunologically mediated disease, triggered by an infectious
agent
Genetic predisposition – HLA-B27
Reactive Arthritis
Reiter syndrome
Clinical features:
(2)
Prevalent in young adult men
Triad:
Triad:
Urethritis (often first sign)
Arthritis –usually affects joints of lower extremities
Conjunctivitis
Reactive Arthritis
Reiter syndrome
Clinical features:
Oral:
Skin lesions:
erythematous papules, shallow ulcers
Tongue, buccal mucosa, palate, gingiva
on penis – balanitis circinata:
Similar appearance to geographic tongue
