Living with Mutilating keratoderma
A rare inherited skin condition (Vohwinkel syndrome) with thick calluses on the hands and feet and tight bands on the fingers and toes.
Understanding Mutilating keratoderma
In the classic form, thick, honeycomb-like calluses form on the palms and soles in infancy or early childhood. Star-shaped patches of thick skin can appear on the fingers, toes, or knees. Tight bands (pseudoainhum) can form around fingers and toes and may cut off circulation. The classic form also includes hearing loss. The variant form has dry, scaly skin but no hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick, honeycomb-like calluses on palms and soles
- Tight bands around fingers and toes
- Loss of fingers or toes without injury (autoamputation)
- Hearing loss (sensorineural)
- Thickened skin (hyperkeratosis)
- Learning or thinking difficulties
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 ear, nose, and throat specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in GJB2 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
- Ear, nose, and throat specialists (otolaryngologists); 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
GARD lists changes in the GJB2 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: keratoderma hereditarium mutilans; mutilating keratoderma of vohwinkel; mutilating keratoderma plus deafness; mutilating keratoderma plus hearing loss; ppk mutilans and deafness; ppk mutilans and hearing loss
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesMutilating keratoderma · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mutilating keratoderma.
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