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21 Cards in this Set
- Front
- Back
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Oculocutaneous albinism |
AR Tyrosinase deficiency |
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Hermansky Pudlak syndrome |
Oculocutaneous albinism AR Platelet dysfunction Granulomatous colitis ILD |
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Chediak Higashi Syndrome (CHS 1 gene) |
AR Albinism AR Recurrent abscess Bleeding Nystagmus Peripheral neuropathy LYST (lysosomal trafficking) defect - problem in phagolysososome formation
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Piebaldism |
AD white forelock Amelamotic area with hyper pigmented islands within |
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Waardenburg syndrome |
AD White forelock Cochlear deafness Heterochromia iridis
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Trichome sign |
Vitiligo Autoantibodies A/w: Graves, hashimoto's, type 1 dm, addison's, pernicious anemia, scleroderma, alopecia areata |
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Vogt Koyanagi Harada syndrome |
Vitiligo Poliosis Aseptic meningitis Tinnitus Hearing loss Autoimmunity by T cells against melanocytes |
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Coast of California Café au lait |
Neurofibromatosis |
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Coast of Maine (irregular) |
McCune Albright syndrome GNAS1 gene 20q13 polyostotic fibrous dysplasia Pseudo Precocious puberty |
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Cafe au lait spots |
Watson syndrome Tuberous sclerosis LEOPARD syndrome MEN-1 VHL Ataxia telangiectasia Bloom syndrome Normal ppl |
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Watson syndrome |
Café au lait Lisch nodules Axillary/inguinal freckling Allelic to NF1 |
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Ephelides |
Freckles Overactive melanocytes Seasonal aggravation A/w XP, NF |
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Lentigenes |
Brown macules Linear increase of melanocytes in basal layer No seasonal variation Mucosa + |
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LAMB |
Lentigenes Atrial myxomas Mucocutameous myxomas Blue nevi |
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LEOPARD |
Lentigenes Ecg abnormalities Ocular hypertelorism Pulmonary stenosis + subaortic stenosis Abnormal genitalia Retardation of growth Deafness |
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NAMES |
Nevi Atrial myxoma Myxoid neurofibroma Ephelides |
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POEMS |
Polyneuropahy Organomegaly Endocrinopathies M-protein Skin changes |
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Carney complex |
LAMB NAME |
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Periorificial lentigenes |
Peutz Jegher syndrome Serine threonine kinase gene 19p Small intestine hamartomatous polyps |
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Diffuse mottled hyperpigmentation of Retina |
1/3 pts with incontinentia pigmenti or Bloch Sulzberger syndrome X linked dominant - lethal in males Blaschkos line whorled hyperpigmentation
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Hypomelanosis of Ito |
Incontinentia Pigmenti Achromians Hyaline bodies within epidermal whorls |
