Other genodermatoses Flashcards
(42 cards)
Multiple endocrine neoplasia
Cowden syndrome
Table of genodermatoses
Name the types of MEN (multiple endocrine neoplasia)
Discuss MEN 1
Discuss MEN type 2A
Discuss MEN 2B
Clinical manifestations of PTEN hamartoma tumor syndrome and screening recommendations
Revised clinical diagnostic criteria for PTEN hamartoma tumor syndrome
Gardner syndrome
Muir-Torre syndrome
Risk assessment for muir-torre syndrome (MTS)
Surveillance guidelines for patients with Lynch syndrome, including Muir-Torre syndrome
Name enzyme deficiency genodermatoses
- Alkaptonuria
- Biotinidase and holocarboxylase synthetase deficiencies
- Fabry disease
- Fucosidosis
- Gaucher disease
- Hartnup disease
- Mitochondrial disorders
- Niemann-Pick disease
- Phenylketonuria
Alkaptonuria
Biotinidase and holocarboxylase synthetase deficiency
Fabry disease
Clinical features of alkaptonuria (picture)
clinical features of fabry disease and fucosidosis
Fucosidosis
Disorders (genodermatoses) featuring tumorigenesis
- MEN
- Cowden syndrome
- Gardner syndrome
- Muire-Torre syndrome
Premature aging syndromes and poikiloderma
- Hutchinson-Gilford progeria syndrome
- Werner syndrome
- MDPL syndrome
- Penttinen syndrome
- Acrogeria
- Kindler syndrome
- Cockayne syndrome
- Rothmund-Thomson
Gaucher disease
Inherited metabolic disorders associated with angiokeratoma corporis diffusum