Module R: Genodermatoses

This module is a comprehensive exploration of genetic skin disorders with implications for broader systemic health. Part 1 examines conditions like ichthyoses, erythrokeratodermas, and keratodermas, along with specific disorders like Darier and Hailey-Hailey disease. Emphasis will be placed on identifying clinical features, using diagnostic tools, and understanding management strategies essential for these challenging conditions. Part 2 dives deeper into genodermatoses, focusing on disorders that frequently bring patients — especially children — into dermatology offices. This section will explore primary immunodeficiencies, diagnostic criteria for neurofibromatosis and tuberous sclerosis, types of mosaicism, and other unique genetic skin conditions.

3 CME credits

After participating in this module, the learner will be able to:

Section 1: Genodermatoses Part 1

1. Identify pertinent associated findings with each ichthyosis, erythrokeratoderma, or keratoderma that requires evaluation and treatment.
2. Distinguish clinical features of the ichthyoses and the diagnostic lab.
3. Identify the distinguishing clinical features of the erythrokeratodermas and recommendations for management.
4. Identify the three classifications of keratodermas and an example of each.
5. Identify distinguishing diagnostic features of Darier disease and Hailey-Hailey disease.

Section 2: Genodermatoses Part 2

1. Identify a primary immunodeficiency and its distinguishing clinical features.
2. Identify diagnostic criteria for neurofibromatosis 1 and tuberous sclerosis.
3. Explain the difference between the terms genomic mosaicism and functional mosaicism.
4. Identify mosaic skin conditions including epidermal nevus syndrome, incontinentia pigmenti (IP), and Goltz syndrome.
5. Identify disorders that are associated with extracutaneous tumorigenesis.
6. Identify disorders that are associated with enzyme deficiencies.
7. Identify distinguishing clinical features of premature aging disorders and ectodermal dysplasias.
8. Identify developmental anomalies that occur from complications in utero.

*Previously known as Module 20 in the Diplomate Fellowship

This module and others will be released on a rolling basis through the remainder of 2025.