Living with Palmoplantar keratoderma-esophageal carcinoma syndrome
An inherited condition with thick skin on the palms and soles and a higher chance of esophageal cancer.
Understanding Palmoplantar keratoderma-esophageal carcinoma syndrome
Thick skin on the palms and soles (palmoplantar keratoderma) and white patches in the mouth are features. The skin changes usually begin in childhood, and esophageal cancer usually occurs in adulthood. GARD says diagnosis is based on symptoms, an exam, and family history, and can be confirmed with genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick skin on palms and soles
- White patches in the mouth
- Trouble swallowing (dysphagia)
- Acid reflux
- Nausea and vomiting
- Weight loss and poor appetite
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists, digestive system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in RHBDF2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation for Ichthyosis and Related Skin Types and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the RHBDF2 gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: bennion patterson syndrome; bennion-patterson syndrome; howel evans syndrome; howel-evans-clark syndrome; howel-evans' syndrome; howell-evans syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesPalmoplantar keratoderma-esophageal carcinoma syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Palmoplantar keratoderma-esophageal carcinoma syndrome.
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