Hyperkeratosis follicularis et parafollicularis

Hyperkeratosis Follicularis et Parafollicularis- A Detailed Overview

Hyperkeratosis follicularis et parafollicularis, also known as Darier disease, is a rare inherited disorder characterized by brown spots and red, scaly patches on the skin. The disorder is caused by mutations in the ATP2A2 gene which provides instructions for making a protein that is involved in the functioning of cells in the skin. Although the disorder is not life-threatening, it can cause physical and psychological distress. It is also characterized by an increased susceptibility to skin cancer.

It most commonly affects the face, chest, back, and scalp, but can also appear elsewhere on the body. The primary symptom of the condition is the presence of firm, yellowish-brown spots, which are called “annular macules”. These macules can also become red and scaly. Other symptoms include:

  • Thickened or rough patches of skin
  • A lumpy, bumpy texture on the skin
  • Increased skin sensitivity
  • Warts or calluses on the skin
  • Frequent outbreaks of skin infection

The diagnosis of this condition is largely based on visual inspection of the skin and family history. A biopsy may be performed to confirm the diagnosis and rule out other possible conditions. Genetic testing may also be ordered to confirm the specific genetic mutation that is causing the condition. Treatment of this condition includes the use of topical treatments including retinoids and antibiotics as well as phototherapy.

Since this condition is caused by a genetic mutation, it cannot be cured. However, treatments such as lifestyle modifications and skin care regimens can help minimize the symptoms and improve overall quality of life. Some patients may even opt for surgical interventions such as skin grafts or laser treatment to reduce the appearance of the affected skin.

If you or someone you know is suspected of having hyperkeratosis follicularis et parafollicularis, it is important to seek medical attention as soon as possible to rule out any other underlying conditions and establish an appropriate treatment plan. Working with your doctor can help you manage the condition and reduce its impact on your life.