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
what condition is an isolated, fixed false belief of infestation with parasites
- Delusions of Parasitosis (Morgellon’s Disease)
Delusions of Parasitosis (Morgellon’s Disease) presents around what age
- 50s-60s
what condition would you think about with a patient history of using pesticides on their skin, hiring exterminators, or even changing residence in an attempt to eradicate parasites?
- Delusions of Parasitosis (Morgellon’s Disease)
Morgellon’s disease classically has _____ extruding from the skin Delusions of Parasitosis has _____ extruding from the skin
- fibers - parasites
treatment of Delusions of Parasitosis (Morgellon’s Disease)
- antipsychotic medication - Pimozide - Risperidone
what are benign proliferations of endothelial tissue that are the most common tumors among infants
- infantile hemangioma
progression of infantile hemangioma
- appears in first weeks of life - proliferates for 6-24 months - then involutes over the next 3-10 years
superficial infantile hemangioma looks like what
- bright red
deep infantile hemangioma looks like what
- blue-purple nodule
complications of infantile hemangioma
- ulceration leading to pain and infection - PHACES syndrome - diffuse neonatal hemangiomatosis
what is PHACES syndrome
- large, facial, dermatomal hemangiomas Posterior fossa and brain malformations Hemangioma Arterial anomalies of cervical and cerebral vessels Cardiac defects Eye anomalies Sternal defects
what condition is diffuse skin and visceral involvement with risk of high output cardiac failure
- diffuse neonatal hemangiomatosis
treatment of high disfigurement risk of infantile hemangioma
- propranolol - systemic corticosteroids - vincristine
what are well-demarcated red macules and patches that present at birth but develop darker color and cobblestoned texture and nodules as the patient ages
- port wine stain
what is port wine stain
- congenital capillary malformation
what condition has a port wine stain in the V1/V2 distribution associated with leptomeningeal angiomas and is associated with developmental delay, seizures, ocular abnormalities, and tissue overgrowth
- Sturge-Weber syndrome
what condition has a midline lumbosacral port wine stain
- spinal dysraphism
conditions that are located on the mid-face, eyelids, and nape (neck) are known as may be more prominent when crying
- nevus simplex, salmon patches
treatment of port wine stain
- laser therapy - treat younger
what condition in HIV positive individuals presents with dark nodules on the face, neck, and chest and may present in the mouth
- Kaposi sarcoma
Kaposi sarcoma is a neoplasm of endothelial cells linked to ______
- HHV8
Kaposi sarcoma is most commonly associated with HIV/AIDs and transplant patients due to ________
- immunosuppression
prevention for Kaposi sarcoma
- HAART therapy (combined antiretroviral therapy_
treatment of Kaposi sarcoma
- chemotherapy
what is an inflammatory disorder of the hair follicle causing abscesses, nodules and sinuses
- hidradenitis suppurativa (acne inversa)
is hidradenitis suppurativa (acne inversa) due to infection or hygeine
- no
risk factors for hidradenitis suppurativa (acne inversa)
- female gender - family history - smoking - obesity
what are epithelialized tunnels with multiple connections to the skin surface
- sinuses
management of hidradenitis suppurativa (acne inversa)
- long term antibiotics - OCPs/spironolactone - adalimumab - incision and drainage
