Flashcards in Genoderms Syndrome Deck (257)
A person has kidney cancer, multiple skin tags and little skin nodules, and is now short of breath. what could it be?
Birt Hogg Dube syndrome
multiple trichodisc, fibrofolliculomas, acrochordons, chromophobe RCC, renal oncocytoma, and SPONTANEOUS PNEUMOTHORAX!)
Disorder with multiple lentigenes, lipomas, and hemangiomas
Bannayan-Riley-Ruvalcaba Syndrome (PTEN)
Mucocutaneous lentigenes, genital lentigenes, longitudinal melanonychia
Which PPV have congenital dermal melanocytosis?
Types II and IV
Type of EB associated with deafness
Dowling-Meara = EBS Herpetiformis
EB associated with deafness
Dowling Meara (EBS Herpetiformis)
EB associated with clumped tonofilaments
EBS Herpetiformis (Dowling-Meara)
EBS with reticulated hyperpigmentation over the trunk
EBS with Mottled pigmentation (AR with mutation in K5)
EB with exuberant granulation tissue
JEB Herlitz type (ED lethalis) *one of the ones with premature termination codon
Kind of EB with defect in Type VII Collagen
Dystrophic EBs (defect in the Sublamina Densa)
genoderm with sporadic inheritance pattern
Inheritance pattern for hypermelanosis of Ito
inheritance pattern for sturge weber
inheritance pattern for Cowdens
Name some genoderms with sporadic inheritance patterns?
Hypomelanosis of Ito
which MEN syndrome is caused by a mutation in the tumor suppressor menin?
Another name for MEN-1?
Angiofibromas, collagenomas, lipomas, CALMs
pituitary parathyroid pancreatic tumors
Angiofibromas, collagenomas, lipomas, CALMS
MEN syndrome due to a RET mutation (tyrosine kinase receptor)
Lichen or macular amyloidosis, hemangiomas, genital lentigenes, hamartomas
Mucosal neuromas, thickened lips, marfanoid habitus, megacolon
Mutation in p63
Hay Wells syndrome and other ectodermal dysplasias which cause ankeloblepharon
Gene defect in EHK
Mild erythroderma in infancy with large translucent scales
Evolves into brown dirty scales
Mother with failure to progress in labor
Which ichthyosis occurs after failure to progress in labor/ low estrogen in the urine?