Naxos disease

Naxos Disease: A Rare Genetic Condition

Naxos disease, also known as diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy, is a rare genetic condition that affects the skin, hair, and heart. It is characterized by:

• Palmoplantar keratoderma: A thickening of the skin on the palms and soles, which can lead to calluses or bumps.
• Woolly hair: Abnormalities in the texture of the hair, often described as woolly or soft.
• Arrhythmogenic right ventricular cardiomyopathy (ARVC): A condition where the heart's right ventricle is affected, leading to abnormal heart rhythms.

Naxos disease is an autosomal recessive condition, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. It has a prevalence of 1 in 1000 in Naxos, Greece, where it was first described.

The symptoms of Naxos disease can vary in severity and may not be apparent at birth or early childhood. The cardiac symptoms typically develop in young adulthood or later, while the skin and hair abnormalities are often present from birth.

References:

• [1] Description of Naxos disease as a cutaneous condition characterized by palmoplantar keratoderma.
• [2-3] First reported cases of Naxos disease in patients originating from the Hellenic island of Naxos.
• [4, 5, 6, 7, 8, 9, 10, 11, 12, 13] Various descriptions and characteristics of Naxos disease.

Naxos disease, also known as Type I Carvajal syndrome, is a rare genetic disorder that affects the heart, skin, and hair. The signs and symptoms of Naxos disease can be divided into three main categories: cardiac, dermatological, and trichological.

Cardiac Symptoms

• Cardiomegaly (enlarged heart)
• EKG abnormalities
• Episodes of ventricular tachycardia
• Sudden death

These cardiac symptoms are a result of the disease's impact on the heart muscle, leading to its deterioration and eventual failure. According to [5], seven out of nine affected persons showed signs and symptoms of heart disease.

Dermatological Symptoms

• Palmoplantar keratoderma (thickening of skin on palms and soles)
• Woolly hair

These dermatological symptoms are characteristic of Naxos disease and can appear early in the course of the disease. According to [6], woolly hair is one of the telltale signs of Naxos disease and Carvajal syndrome.

Trichological Symptoms

• Woolly hair
• Sparse eyebrow

These trichological symptoms are also associated with Naxos disease, as mentioned in [3] and [4]. The sparse eyebrow symptom is a rare but notable feature of the disease.

It's worth noting that these symptoms can vary in severity and may not be present in all individuals affected by Naxos disease. However, they are commonly reported in medical literature and should be considered when diagnosing this condition.

References: [1] - Not applicable (no relevant information found) [2] - Not applicable (no relevant information found) [3] Context 3 [4] Context 4 [5] Context 7 [6] Context 6

Naxos disease, also known as autosomal recessive arrhythmogenic right ventricular cardiomyopathy (ARVC), is a rare genetic disorder that affects the heart and skin. Diagnostic tests for Naxos disease are crucial in confirming the diagnosis and ruling out other conditions.

Electrocardiogram (ECG/EKG): An ECG is a non-invasive test that records the electrical activity of the heart. In patients with Naxos disease, an ECG may show repolarization and depolarization abnormalities [3].

Transthoracic echocardiogram: This test uses sound waves to create images of the heart's structure and function. It can help identify fatty infiltration or fibrosis in the right ventricle, which is characteristic of Naxos disease [5].

Holter monitor: A Holter monitor is a portable device that records the heart's activity over a 24-hour period. It can detect abnormal heart rhythms and arrhythmias associated with Naxos disease.

Genetic testing: Genetic tests can analyze genes associated with ARVC, including those responsible for Naxos disease [7]. This test can confirm the diagnosis by identifying mutations in the plakoglobin gene.

Dermoscopy: Dermoscopy is a diagnostic tool that allows dermatologists to examine the skin's surface and detect abnormalities. In patients with Naxos disease, dermoscopy may reveal palmoplantar keratoderma (thickening of the skin on the palms and soles) [8].

Pathological examination: A pathological examination of heart tissue can confirm the diagnosis by identifying myocardium embedded in or bordered by fatty tissue and/or fibrosis [9].

Treatment Options for Naxos Disease

Naxos disease, a rare genetic cardiocutaneous syndrome, requires careful management to prevent complications such as arrhythmias and sudden cardiac death (SCD). While there is no cure for the condition, various drug treatments can help manage its symptoms.

• Antiarrhythmic drugs: These medications are used to prevent recurrences of episodes of sustained ventricular tachycardia and classical pharmacological treatment for congestive heart failure [1]. Anti-arrhythmic drugs such as amiodarone alone or in combination with a beta-blocker are the most effective drug therapy to prevent symptomatic ventricular tachycardia [7].
• Colchicine: Adjuvant low-dose colchicine therapy has been shown to have positive effects and can be continued for six months [2]. Colchicine has anti-inflammatory properties, which may help manage symptoms associated with Naxos disease.
• Anti-congestive medications: These medications are used to manage heart failure symptoms in patients with Naxos disease [12].
• Heparin: In cases where thrombosis is present, heparin infusion may be necessary to prevent further complications [12].

Important Considerations

It's essential to note that specific data on Naxos disease treatment are limited. Therefore, larger registries and clinical trials are welcome to gain more knowledge about the condition and its management.

References:

[1] Context result 15 [2] Context result 2 [7] Context result 7 [12] Context result 12

Differential Diagnosis of Naxos Disease

Naxos disease, also known as keratoderma with woolly hair type 1, is a rare genetically inherited syndrome characterized by the triad of woolly hair, keratosis of the extremities, and right ventricular dysfunction [2]. When diagnosing Naxos disease, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for Naxos disease:

• Carvajal syndrome: This is another rare genetic disorder that presents with woolly hair, keratosis of the extremities, and right ventricular dysfunction [5]. Carvajal syndrome can be distinguished from Naxos disease by its earlier manifestation in childhood and the presence of additional symptoms such as cleft palate and intellectual disability.
• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC): ARVC is a condition characterized by the replacement of myocardium with fatty tissue and/or fibrosis, leading to right ventricular dysfunction [3]. While Naxos disease is a form of ARVC caused by a mutation in the gene encoding plakoglobin, other forms of ARVC may not present with the characteristic triad of woolly hair, keratosis of the extremities, and right ventricular dysfunction.
• Right Ventricular Outflow Tract Tachycardia: This is a condition characterized by abnormal heart rhythms originating from the right ventricle [8]. While it can be associated with Naxos disease, it's not a specific differential diagnosis for this condition.

Diagnostic Criteria

The diagnosis of Naxos disease is based on the presence of the characteristic triad of woolly hair, keratosis of the extremities, and right ventricular dysfunction. Electrophysiological studies may be important for differential diagnosis, including RV outflow tract tachycardia [8]. MRI can also contribute to the differential diagnosis of Naxos disease and Carvajal syndrome [6].

References

[1] by N Protonotarios · 2005 · Cited by 33 [2] Apr 26, 2022 [3] by GL Li · 2018 · Cited by 25 [4] by GL Li · 2018 · Cited by 25 [5] by AKMM Islam · 2017 · Cited by 1 [6] Nov 13, 2007 [7] by M Leopoulou · 2021 [8] by AKMM Islam · 2016 · Cited by 10