Living with Haim-Munk syndrome
A rare inherited condition with thick skin on the palms and soles, severe gum disease starting early, and nail and finger changes.
Understanding Haim-Munk syndrome
Features include thick palms and soles (palmoplantar hyperkeratosis), severe early gum disease (periodontitis), thick curved nails, flat feet, long slender fingers (arachnodactyly), and bone loss at the fingertips (acroosteolysis). It usually begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened skin on the palms and soles
- Severe gum disease (periodontitis)
- Cavities
- Thick nails
- Long, slender fingers
- Flat feet
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 genetic specialists, gum, teeth and mouth specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CTSC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 CTSC gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cochin jewish disorder; haim munk syndrome; hms; keratosis palmoplantaris with periodontopathia and onychogryposis; keratosis palmoplantaris with periodontopathia and onychogryposis syndrome; keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Haim-Munk syndrome.
Explore research for Haim-Munk syndrome
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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