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Dermatology
Other Genodermatoses
Built from Dermatology, 5th Edition
What’s inside
5 sections · 66 slides
Overview
- Genodermatoses that flag hidden cancer risk
- Genodermatoses
Multiple Endocrine Neoplasia
Tumors or overgrowth in two or more endocrine glands, often with a skin clue
- What is multiple endocrine neoplasia
- Three types of MEN
- MEN type 1 (Wermer syndrome)
- MEN type 1 (Wermer syndrome) (continued)
- MEN type 2 A (MEN type 2, Sipple syndrome)
- MEN type 2 A (MEN type 2, Sipple syndrome) (continued)
- MEN type 2B (MEN type 3, multiple mucosal neuroma syndrome)
- MEN type 2B (MEN type 3, multiple mucosal neuroma syndrome) (continued)
- MEN1: facial and truncal skin findings
- MEN1: internal tumors
- MEN2B: mucosal neuromas
- MEN2B: additional features
PTEN Hamartoma Tumor Syndrome
Cowden syndrome and related disorders caused by PTEN gene mutations
- What is PTEN hamartoma tumor syndrome
- History and epidemiology
- How losing PTEN causes tumors
- Mosaicism: why presentations vary
- Revised clinical diagnostic criteria for PTEN hamartoma tumor syndrome
- Revised clinical diagnostic criteria for PTEN hamartoma tumor syndrome (continued)
- Facial and oral papules in Cowden syndrome
- Tricholemmoma: naming the wart look-alike
- Palmoplantar keratoses and sclerotic fibromas
- Other skin and soft-tissue findings
- up to 85%
- Clinical manifestations of PTEN hamartoma tumor syndrome
- Clinical manifestations of PTEN hamartoma tumor syndrome (continued)
- Clinical manifestations of PTEN hamartoma tumor syndrome (continued)
- PTEN hamartoma tumor syndrome: screening recommendations
- Pathology
- Differential diagnosis
- Distinguishing tricholemmomas from other bumps
- Treatment
Gardner Syndrome
A variant of familial adenomatous polyposis with prominent skin and bone findings
- What is Gardner syndrome
- History and epidemiology
- How APC loss drives Gardner syndrome
- Skin cysts and fibromas
- Desmoid tumors
- Retinal pigment epithelial hamartomas
- Bone and dental findings
- Other tumor risks in familial adenomatous polyposis
- Two syndromes both once called Turcot syndrome
- Intestinal polyps and colorectal cancer risk
- Pathology
- Differential diagnosis: MUTYH-associated polyposis
- Surveillance and management
- Treating desmoid tumors
Muir–Torre Syndrome
A variant of Lynch syndrome marked by sebaceous skin tumors
- What is Muir-Torre syndrome
- History and epidemiology
- How mismatch-repair loss causes Muir-Torre syndrome
- Timing of skin tumors versus internal cancer
- Sebaceous neoplasms of the forehead
- Keratoacanthomas and Fordyce granules
- 50-60%
- Colorectal cancer pattern
- Risk assessment for Muir–Torre syndrome (MTS)
- Risk assessment for Muir–Torre syndrome (MTS) (continued)
- Diagnosis
- Pathology and lab testing
- Differential diagnosis
- Surveillance guidelines for patients with Lynch syndrome, including Muir–Torre syndrome
- Surveillance guidelines for patients with Lynch syndrome, including Muir–Torre syndrome (continued)
- Treatment
- Comparing the four syndromes
- Key takeaways
- Dermatology, 5th Edition (2-Volume Set)