arrhythmogenic cardiomyopathy with wooly hair and keratoderma

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma is a very rare inherited disorder that affects both the heart and the skin-hair system. It is most often linked to changes in the DSP gene, which provides instructions for desmoplakin, a protein that helps hold heart and skin cells together. Symptoms usually begin in childhood, although the exact age of onset can vary widely. Fewer than one in a million people are thought to be affected worldwide, and both males and females can develop the condition. Because the heart and skin can be involved to different degrees, the first sign may be either distinctive hair and skin findings or heart rhythm problems.

The condition presents a recognizable combination of skin, hair, and heart findings, although not everyone experiences all features and severity varies considerably. Dermatologic and hair features. Nearly all affected individuals develop thickened, sometimes fragile skin on the palms and soles (palmoplantar keratoderma). Blistering or easy tearing of the skin and microscopic separation of skin layers (acantholysis) are characteristic and may be seen from infancy. Most people also have tightly curled "wooly" hair that is present at birth or soon afterward; eyebrows and eyelashes may be sparse, and some individuals develop patchy hair loss over time. Cardiac features. The main cardiac concern is arrhythmogenic cardiomyopathy, a disease in which the heart muscle becomes weakened or scar-like and prone to dangerous rhythm disturbances. Both the right and left ventricles can be affected, and some individuals go on to develop dilated cardiomyopathy with heart enlargement and reduced pumping strength. Ventricular tachycardia, fainting episodes, or, rarely, sudden cardiac arrest may occur, sometimes before the skin features draw medical attention. Growth and other findings. Feeding difficulties and poor weight gain in infancy have been reported in some children, and nail dystrophy or mild redness and scaling of the palms and soles can accompany the more obvious skin thickening. Because the mix and timing of symptoms can differ greatly, regular medical follow-up is important even when early signs appear mild.

This condition is caused by pathogenic variants in the DSP gene. DSP encodes desmoplakin, a key structural protein that anchors cells to one another through specialized junctions called desmosomes. When desmoplakin is disrupted, cells in mechanically stressed tissues such as heart muscle and thick skin layers lose cohesion, leading to tissue fragility and scarring. Arrhythmogenic cardiomyopathy with wooly hair and keratoderma follows an autosomal recessive inheritance pattern. Affected individuals inherit two altered copies of the DSP gene, one from each parent. Parents who each carry a single variant are typically healthy but have a 25 percent chance with every pregnancy to have an affected child, a 50 percent chance to have a child who is an unaffected carrier, and a 25 percent chance to have a child with no DSP variants. This condition is more common when parents share a common ancestor, because related parents are more likely to carry the same rare genetic change. Carrier testing may be particularly relevant for extended family members who are planning children. Even among individuals who inherit two DSP variants, the severity and specific symptoms can vary (variable expressivity), likely influenced by additional genetic and environmental factors. Genetic counseling is strongly recommended for affected families.

Currently, management focuses on supportive care and symptom management tailored to the individual. Cardiac care is central and may include medications to support heart function, rhythm-control strategies, and consideration of implantable cardioverter-defibrillators in those at high risk for dangerous arrhythmias. Dermatologic treatment addresses skin fragility and thickening through topical therapies and protective measures to reduce blistering and infection risk. Long-term management includes regular surveillance for potential complications. Ongoing cardiac monitoring with periodic ECGs and imaging helps detect ventricular dysfunction or arrhythmias before they become serious. Skin assessments by a dermatologist track keratoderma progression and guide wound care. Because issues span multiple organ systems, a multidisciplinary team—typically including cardiology, dermatology, genetics, and when needed nutrition and psychology—coordinates care across the lifespan. Genetic counseling provides families with recurrence information, helps identify carrier relatives, and supports family planning decisions. Patients should discuss all management options with their healthcare team to determine what is appropriate for their specific situation.

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma shows a wide range of outcomes that are mostly tied to how much the heart is affected. Some people have only mild rhythm problems and may stay stable for decades, while others face worsening heart weakness that can shorten life expectancy to the 30s or 40s without treatment. With regular screening, medicines, implanted defibrillators, and timely transplant when needed, many now live well into their 50s to 70s. Skin thickening and hair changes last a lifetime but rarely threaten life. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to work closely with a cardiologist who understands inherited heart disease, meet with a genetic counselor, and seek patient support groups for ongoing education and emotional help.