Living with Ichthyosis hystrix of Curth-Macklin
A rare inherited skin condition with severe thickened skin patches and thick palms and soles.
Understanding Ichthyosis hystrix of Curth-Macklin
IHCM is marked by severe patches of thickened skin (hyperkeratosis) and thickened skin on the palms and soles (palmoplantar keratoderma). GARD lists childhood as the usual time it begins.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened, scaly skin (ichthyosis)
- Thick skin on the palms and soles
- Joints that can't fully straighten (flexion contracture)
- Poorly formed nails (nail dystrophy)
- Repeated skin infections
- Loss of digits (less common)
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 and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in KRT1 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
- 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 KRT1 gene cause this condition. It is inherited in an autosomal dominant pattern, so one changed copy of the gene can be enough.
Also known as: curth-macklin type ichthyosis hystrix; ichthyosis histrix, curth-macklin type; ichthyosis hystrix, curth macklin type; ichthyosis hystrix, curth-macklin type; ihcm
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis hystrix of Curth-Macklin · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ichthyosis hystrix of Curth-Macklin.
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