Skin Diseases For Specialists Flashcards
what condition is characterized by brown spots and firm nodules growing on the body with spots present in the eye
- type I neurofibromatosis
genetics of type I neurofibromatosis
- autosomal dominant
cause of type I neurofibromatosis
- mutations in neurofibromin 1
what condition is associated with neurofibromas, cafe-au-lait macules, axillary and/or inguinal freckling, and plexiform neurofibromas
- type I neurofibromatosis
what are oval-shaped, tan to brown patches with regular borders and uniform pigmentation that become more noticeable throughout the first decade
- cafe-au-lait macules
what are brown spots in the eye called condition it is associated with
- lisch nodules - type I neurofibromatosis
management of type I neurofibromatosis
- excision of changing or symptomatic neurofibromas - screen for optic gliomas
what condition presents with bilateral asymptomatic papules on the face and hypo-pigmented patches on the back and arms. may also present with nodules on the gums
- tuberous sclerosis
tuberous sclerosis mutations
- TSC1 (hamartin gene) - TSC2 (tuberin gene)
what condition presents with facial angiofibromas that are usually symmetric and bilateral, hypomelanotic macule, shagreen patches, and periungual fibromas
- tuberous sclerosis
what is the name of a connective tissue nevi whose surface is typically describes as leather-like or pigskin
- shagreen patch
management of tuberous sclerosis
- neurodevelopmental eval - eye exam - cranial CT - EEG/ECG - renal ultrasound
what condition related to inflammatory bowel disease starts out as papulopustules that give way to ulceration
- pyoderma gangrenosum
pyoderma gangrenosum is related to what underlying systemic disease
- IBD - hematologic malignancy
pyoderma gangrenosum most common where on the body
- lower extremities
what condition do you think of when wounds break down 2-3 days after surgery
- pyoderma gangrenosum
treatment of pyoderma gangrenosum
- local and systemic corticosteroids
what condition is an inflammatory disease that leads to ivory-white scar-like atrophy on and off the genitals
- lichen sclerosus
treatment of lichen sclerosus
- clobetasol ointment for 12-24 weeks