Show:
Hereditary hypomelanosis (1.0)
Hereditary hypomelanosis (2.0)
Mechanisms of dyspigmentation (1.0)
Mechanisms of dyspigmentation (2.0)
Buffalo, NY
trivia
100
Which pigmentary disorder is associated with inactivating mutations in KIT? What are the clinical features?
Piebaldism (AD). Defective melanocyte migration/development > white forelock, irregularly-shaped leukoderma on anterior trunk, extremities, forehead
100
What mutation is associated with Oculocutaneous Albinism, Type 1A. What do you seen clinically?
TYR (AR). NO active tyrosinase. > No melanin (skin/hair/eyes); white hair, amelanotic nevi, extreme UVR sensitivity, risk of skin CA, nystagmus, strabismus, decreased visual acuity
100
What causes linear nevoid hypopigmentation aka “Hypomelanosis of Ito”?
“Pigmentary mosaicism” whereby a clone of skin cells with a decreased ability to make pigment grows/migrates along Blaschko’s lines
100
What is the mechanism of post-inflammatory hypopigmentation
Cutaneous inflammation > altered melanosome biogenesis, melanin production, melanosome transport, and esp. transfer of melanosomes to KCs. Severe local inflammation can lead to a loss of functional melanocytes or even melanocyte death.
100
What Buffalo restaurant invented the chicken (buffalo) wing?
the Anchor Bar
200
What mutation is associated with Waardenburg Syndrome, Type 1. What do you seen clinically?
PAX3 (AD). > White forelock, leukoderma, heterochromia iridis, synophrys, dystopia canthorum, broad nasal root, deafness (uncommon)
200
What is the most common form of Oculocutaneous Albinism?
OCA, Type 2. Mutation P gene (AR). > Broad phenotype. Min-to-moderate pigment dilution, pigmented nevi & light brown hair/skin over time
200
What condition is a/w mutations in NFkB essential modulator? What are the clinical features?
Incontinentia Pigmenti (XLD; NEMO gene > lethal in males). > cutaneous lesions follow lines of Blaschko. 4 stages: vesicular, verrucous, hyper, hypopgmented. a/w patchy scarring alopecia, absent/peg teeth, CNS & ocular abnormalities.
200
What is the mechanism of the post-inflammatory hyperpigmentation (epidermal form)?
Melanin production and/or transfer to KCs. Inflammatory mediators (e.g. prostaglandins E2 and D2) enhance pigment production.
200
What U.S. President was assassinated in Buffalo, NY?
William McKinley (1901)
300
What is the mutation & distinguishing clinical features of Waardenburg Syndrome, Type 2?
MITF (AD). > Similar to WS1 + deafness (common) & no dystopia canthorum
300
What condition is a/w mutations in HPS or AP3B1 gene? What do you see clinically?
Hermansky-Pudlak syndrome (AR). > OCA, hemorrhagic diathesis, pulmonary fibrosis, granulomatous colitis >> renal failure & cardiomyopathy
300
What pathogenic factors contribute to hyperpigmentation in melasma?
UVR, skin type (darkly pigmented) estrogens (women, pregnancy, OCP), medications
300
What is the mechanism of the post-inflammatory hyperpigmentation (dermal form)?
Melanin enters the dermis via a damaged basement membrane (“pigment drop out”) where it is phagocytosed by and resides within dermal macrophages (melanophages). Macrophages may also migrate into the epidermis, phagocytose melanosomes, and then return to the dermis.
300
What two-time U.S. President first served as Mayor of Buffalo, NY?
Grover Cleveland
400
What is the mutation & distinguishing clinical features of Waardenburg Syndrome, Type 3?
PAX3 (AD). > Similar to WS1 + upper limb abnormalities (hypoplasia, syndactyly, flexion contractures)
400
What condition is a/w mutations in LYST/CHS1 gene? What do you see clinically?
Chediak-Higashi syndrome (AR). > OCA + immunodeficiency (recurrent infections), silvery hair, neurological deterioration, giant lysosomal granules, easy bruising, slate-gray skin color, pancytopenia
400
What is thought to cause melanoma-associated leukoderma?
Immune reaction (cell-mediated) against anitgens shared by normal and malignant melanocytes. a/w favorable prognosis
400
A patient with CML is being treated with imatinib mesylate. During treatment he develops generalized lightening of the skin. What is the mechanism of hypopigmentation?
off-site inhibition of KIT receptor (tyrosine-kinase)
400
Which international sports apparel company was founded in & remains headquartered in Buffalo, NY?
New Era Cap Company
500
What is the mutation & distinguishing clinical features of Waardenburg Syndrome, Type 4
SOX10 (AD); EDN3 or EDNRB (AR). > Similar to WS1 + deafness (common) & Hirschsprung disease
500
What condition is a/w mutations in myosin Va or Rab27a gene. What do you see clinically?
Griscelli syndrome (AR). > Pigmentary dilution (variable), silvery hair, immunodeficiency (recurrent pyogenic infections), pancytopenia (lymphoproliferation), neurologic involvement, NO giant melanosomes
500
What causes hypo & hyperpigmentation in tinea versicolor?
Hypo - Azelaic acid produced by M. furfur (inhibits tyrosinase). Hyper – thickened stratum corneum; more organisms; no increase in melanocyte #
500
What condition is a/w a post-zygotic activating mutation in GNAS1? What do you see clinically?
McCune Albright Syndrome. cAMP cascade is permanently “turned on” > constitutive activation CREB-controlled genes >> hyperplasia of bones and endocrine organs + CALM. *Patients are genetic mosaics.
500
What U.S. president served as the founder & first chancellor of the University at Buffalo?
Millard Fillmore