Rombo syndrome

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Rombo Syndrome

Rombo syndrome (pronounced: /ˈrɒmboʊ/), is a rare genetic disorder characterized by a series of dermatological and physical symptoms.

Etymology

The term "Rombo" is derived from the name of the Swedish family in which the syndrome was first identified in 1986. The syndrome is also known as Atrophoderma Vermiculatum.

Definition

Rombo syndrome is a condition that primarily affects the skin. It is characterized by a distinctive skin appearance that includes yellowish papules (small bumps), particularly on the face; redness and swelling of the skin on the face (erythema); and thin skin with a reduced amount of fat underneath the skin (lipodystrophy). Other features of this condition can include hair loss (alopecia), excessive sweating (hyperhidrosis), and a high susceptibility to certain types of skin cancer, particularly basal cell carcinoma.

Symptoms

The symptoms of Rombo syndrome typically begin in early childhood. The most common symptoms include:

  • Atrophoderma Vermiculatum: This is a skin condition characterized by small, round depressions in the skin, particularly on the face.
  • Erythema: This is a condition that causes the skin to become red and swollen.
  • Lipodystrophy: This is a disorder characterized by a loss of fat tissue, particularly underneath the skin.
  • Alopecia: This is a condition that causes hair loss.
  • Hyperhidrosis: This is a condition that causes excessive sweating.
  • High susceptibility to Basal Cell Carcinoma: This is a type of skin cancer that is particularly common in individuals with Rombo syndrome.

Causes

Rombo syndrome is caused by mutations in the CYP26C1 gene. This gene provides instructions for making an enzyme that helps control the amount of retinoic acid, a form of vitamin A, in the body. Mutations in the CYP26C1 gene disrupt the enzyme's ability to break down retinoic acid, leading to an excess of this substance. This excess retinoic acid can damage skin cells and lead to the characteristic features of Rombo syndrome.

Treatment

There is currently no cure for Rombo syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of the condition. This can include skin care to manage the dermatological symptoms, as well as regular monitoring for skin cancer.

See Also

External links

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