Striate Palmoplantar Keratoderma with Woolly Hair and Dilated Cardiomyopathy

Striate Palmoplantar Keratoderma with Woolly Hair and Dilated Cardiomyopathy

Article
Bone, Muscle, & Joint
Heart & Vascular Health
+5
Contributed byLester Fahrner, MD+1 moreJun 14, 2021

The topic Striate Palmoplantar Keratoderma with Woolly Hair and Dilated Cardiomyopathy you are seeking is a synonym, or alternative name, or is closely related to the medical condition Carvajal Syndrome.

Quick Summary:

  • Carvajal Syndrome may be described as a form of hereditary focal palmoplantar keratoderma that is transmitted in an autosomal recessive manner. The condition manifests during early infancy and is characterized by woolly hair (short and kinked hair) along-with dilated cardiomyopathy affecting the left ventricle. Thus, it is also known as Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome
  • Hereditary focal palmoplantar keratoderma is a type of palmoplantar keratoderma (PPK) caused by genetic mutations. PPK is a benign skin condition, wherein there is thickening of skin (keratoderma) of the palms and/or soles. PPK is considered to be a pattern of skin findings and not a condition in itself. The abnormal skin thickening can be focal (localized), widespread (diffused), or punctate type (appearing as tiny bumps)
  • Carvajal Syndrome is a cardio-cutaneous condition that presents both skin and heart related symptoms. Woolly hair and skin symptoms are observed in early childhood, while heart symptoms are observed usually in late childhood. This can lead to severe heart complications that may be fatal without early intervention
  • Apart from addressing the skin presentations, managing, and treating dilated cardiomyopathy that causes the heart muscles to weaken is a priority. Depending on the severity, it may be treated with lifestyle changes, medications, non-surgical procedures, and through surgical implants. An early diagnosis is important to improve overall prognoses of individuals with Carvajal Syndrome

Please find comprehensive information on Carvajal Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA picture
Approved by

Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team
Lester Fahrner, MD picture
Reviewed by

Lester Fahrner, MD

Chief Medical Officer, DoveMed Team

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