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- Presentation
Genetic Testing and Registry Care for Palmar Plantar Epidermal Disorders
Description
The speaker, a leader of PC Project, describes the organization’s mission to end the pain of pachyonychia congenita and related palmar plantar epidermal disorders through research, a global patient registry, and community support. She argues that genetic testing should be standard of care because these disorders are highly variable and a clinical diagnosis alone can miss important differences in prognosis and associated risks, such as esophageal cancer screening in RHBDF2, cardiomyopathy in another subtype, deafness in GJB2-related disease, or even life-threatening airway obstruction in K6A patients. She emphasizes that knowing the exact genotype helps guide management, informs precision therapies and clinical trial eligibility, and gives patients and families meaningful answers. Practical care tips include careful trimming and debridement of calluses without overthinning, since different subtypes respond differently and some treatments like retinoids can help or harm depending on the disorder. She encourages clinicians to refer patients to the registry, which can help confirm diagnoses, connect patients to experts and other families, and provide a supportive international community. The talk ends by urging doctors, researchers, and patients to work together, with the message to genetically test patients and send those with suspected disorders to PC Project.
View moreConclusions
- Genetic testing should be routine for patients with painful palmoplantar epidermal differentiation disorders because clinical appearance alone often leads to misdiagnosis.
- Identifying the specific gene is important because different pEDDs have different comorbidities, surveillance needs, and treatment implications.
- The PC Project registry is a valuable diagnostic and research tool that helps confirm diagnoses and improves genotype-phenotype understanding.
- Patients and families often feel relief and validation when they receive a molecular diagnosis for symptoms they have lived with for years.
- Management of pEDDs requires individualized care because debridement and other treatments must be adjusted to avoid under- or over-treatment.
- Precision therapies and clinical trials for these disorders increasingly depend on having a genetic diagnosis.
- The registry and patient community provide essential psychosocial support, shared practical advice, and connection for families facing rare disease isolation.
- Clinicians, researchers, and patients are all needed together to improve care and move toward ending the pain of these disorders.
- AAD annual MEETING, March 27–31, 2026, Denver, Colorado
- International Pachyonychia Congenita Research Registry
- Photos courtesy of the International Pachyonychia Congenita Research Registry
- Eli Sprecher, MD, PhD; Edel O’Toole, MD, PhD, FRCP; Alain Hovnanian, MD, PhD; C. David Hansen, MD; Antoni Gostynski, MD; Amy Paller, MD; Stine Bjorn Gram, MD, PhD