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DSP gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DSP gene

The DSP gene is responsible for producing desmoplakin, a protein that maintains tissue stability in the heart and skin; mutations in this gene can lead to severe skin and heart conditions.

Normal Function

The DSP gene provides instructions for making a protein called desmoplakin. This protein is a major component of desmosomes, specialized structures that hold neighboring cells together, providing strength and stability to tissues. Desmosomes are found primarily in the heart and skin and are involved in cell signaling, differentiation, and apoptosis.

Health Conditions Related to Genetic Changes

Keratoderma with woolly hair

Mutations in the DSP gene can cause keratoderma with woolly hair type II (also known as Carvajal syndrome). This condition is characterized by:

  • Palmoplantar keratoderma: Thick, calloused skin on the palms and soles.
  • Hair abnormalities: Coarse, dry, fine, and tightly curled hair.
  • Heart disease: A potentially life-threatening form of heart disease called dilated left ventricular cardiomyopathy.

These mutations lead to an abnormally short desmoplakin protein, which weakens the connections between cells, making skin, hair, and heart muscle fragile and prone to damage under mechanical stress.

Other disorders

DSP gene mutations are also associated with a spectrum of related conditions, including:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC): A heart condition that can occur with or without skin and hair abnormalities.
  • Lethal acantholytic epidermolysis bullosa (LAEB): A severe condition involving extremely fragile, blistering skin, alopecia, nail abnormalities, and cardiomyopathy.
  • Variations: Some individuals may present with only palmoplantar keratoderma or combinations of skin, hair, and dental abnormalities.

Other Names for This Gene

  • 250/210 kDa paraneoplastic pemphigus antigen
  • DCWHKTA
  • desmoplakin I
  • desmoplakin II
  • desmoplakin isoform I
  • desmoplakin isoform II
  • DP
  • DPI
  • DPII
  • KPPS2
  • PPKS2

Frequently Asked Questions

Individuals with DSP mutations are at risk for dilated cardiomyopathy and arrhythmias. Warning signs include unexplained shortness of breath during exercise or at rest, persistent fatigue, swelling in the legs or abdomen, and palpitations or an irregular heartbeat. Because heart failure can develop silently, it is critical to report any new or worsening symptoms to a cardiologist immediately, even if they seem mild.
Genetic carriers should undergo regular cardiac screening, typically including an echocardiogram and an electrocardiogram (ECG), at least once a year. Some specialists may recommend more frequent monitoring, such as every six months, or the use of cardiac MRI if initial tests show subtle changes. Early detection of ventricular dilation or wall motion abnormalities is vital for initiating treatment before significant heart damage occurs.
The palmoplantar keratoderma (thickened skin on palms and soles) is primarily a cosmetic and comfort issue rather than a medical emergency. Treatment usually involves daily moisturizing with emollients containing urea or salicylic acid to soften the skin. In severe cases, a dermatologist may prescribe topical retinoids or keratolytic agents. However, the primary medical focus remains on monitoring and managing the associated heart disease, which poses the greatest risk to life.
DSP-related conditions are typically inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene is needed to cause the condition. If one parent has the mutation, each child has a 50 percent chance of inheriting it. Genetic counseling is strongly recommended for families considering having children to discuss the risks and available testing options for offspring.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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