15: Developmental Mucocutaneous Diseases Flashcards
Ectodermal Dysplasia: Overview
2+ ectodermally-dervied structures do not develop normally, or fail to develop.
Skin, hair, nails, teeth sweet glands
Ectodermal Dysplasia: Clinical Presentation
Heat intolerance
Fine/sparse blonde hairs
Oligodontia, conical teeth
Ectodermal Dysplasia: Treatment
Genetic counseling
Prosthetic dental management
Peutz-Jeghers Syndrome: Population
Childhood, 1 in 100-200,000
Peutz-Jeghers Syndrome: Overview
AD, 35% new mutation STK11 gene (serine/threonine kinase)
Peutz-Jeghers Syndrome: Clinical Presentation
Freckle-like lesions (hands, periorificial skin, oral mucosa)
Polyps in GI tract (NOT precancerous)
Intussusception –> bowel obstruction
Increased cancer risk
Peutz-Jeghers Syndrome: Histopathology
GI polyps are begging, hamartomatous growths of intestinal glandular epithelium
Peutz-Jeghers Syndrome: Treatment
Genetic counseling
Monitor for intussusception, cancer
White Sponge Nevus: Overview
AD, “genodermatosis”
Defect in normal keratinization of skin
White Sponge Nevus: Clinical Presentation
Asymptomatic, thick, white appearance of buccal mucosa bilaterally
White Sponge Nevus: Sites
Buccal mucosa bilaterally Other oral sites Nasal Esophageal, laryngeal Anogenital mucosa
White Sponge Nevus: Diagnosis
Exfoliative cytology
Biopsy shows parakeratosis with acanthuses (thickening of spinous layer)
PAP smear for perinuclear eosinophlic condensation
White Sponge Nevus: Histopathology
Epithelial cells show perinuclear eosinophilic condensation of the cytoplasm
White Sponge Nevus: Treatment
None
Tetracycline rinse for cosmetics
White Sponge Nevus: Prognosis
Good
Perinuclear eosinophlic condensation
White sponge nevus (pathognomonic!)
Acanthosis
White sponge nevus
HHT: Overview
AD, 1 in 10,000
Mutation in gene of blood vessel wall integirty
Telangiectasia definition
Small collections of dilated capillaries
HHT: Clinical Features
1-2mm red papillose on oropharyngeal and nasal mucosae, blanch with diascopy.
HHT: Sites
Vermilion zone, tongue, buccal mucosa.
Hands, feet.
GI, genitourinary, conjunctival mucosa.
HHT: Complications
Arteriovenous fistulas of lung, liver, brain
HHT: Diagnosis
3 of 4: Epistaxis Telangiectasias AV malformation Family history
HHT: Histopathology
Collection of thin-walled vessels in superficial CT
HHT: Treatment
Genetic counseling
None/selective cryotherapy or electrocautery/septal dermoplasty
Iron replacement
Prophylactic antibiotics if AV fistula
HHT: Prognosis
Good
1-2% mortality from complications
10% mortality if develop brain abscess
