Degos 'en cocarde' erythrokeratoderma

=Degos 'en cocarde' Erythrokeratoderma = Degos 'en cocarde' erythrokeratoderma is a rare genetic skin disorder characterized by distinctive skin lesions. This condition is part of a group of disorders known as erythrokeratodermas, which are marked by abnormal skin redness and thickening.

Clinical Features

Degos 'en cocarde' erythrokeratoderma presents with the following clinical features:

• Skin Lesions: The hallmark of this condition is the presence of circular or "target-like" lesions on the skin, which are often described as resembling a "cocarde" or rosette pattern. These lesions are typically red and may have a keratotic (thickened) surface.
• Distribution: Lesions are usually distributed symmetrically on the body and can appear on the trunk, limbs, and sometimes the face.
• Age of Onset: The condition often manifests in infancy or early childhood, but the exact age of onset can vary.

Genetic Basis

Degos 'en cocarde' erythrokeratoderma is believed to have a genetic basis, although the specific genes involved have not been fully elucidated. It is thought to be inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene from an affected parent can cause the disorder.

Diagnosis

Diagnosis of Degos 'en cocarde' erythrokeratoderma is primarily clinical, based on the characteristic appearance of the skin lesions. A dermatologist may perform a skin biopsy to examine the histological features, which can help differentiate it from other types of erythrokeratodermas.

Differential Diagnosis

The differential diagnosis for Degos 'en cocarde' erythrokeratoderma includes other forms of erythrokeratoderma, such as:

• Erythrokeratoderma variabilis
• Progressive symmetric erythrokeratoderma

Management

There is no cure for Degos 'en cocarde' erythrokeratoderma, and treatment is primarily symptomatic. Management strategies may include:

• Emollients and Keratolytics: To soften and reduce the thickness of the skin lesions.
• Topical Steroids: To reduce inflammation and redness.
• Retinoids: In some cases, oral or topical retinoids may be prescribed to help normalize skin cell turnover.

Prognosis

The prognosis for individuals with Degos 'en cocarde' erythrokeratoderma varies. While the condition is chronic, it is not life-threatening. The severity of skin involvement can vary, and some individuals may experience improvement with age.

Research and Future Directions

Ongoing research aims to better understand the genetic mutations responsible for Degos 'en cocarde' erythrokeratoderma and to develop targeted therapies. Advances in genetic testing may improve diagnostic accuracy and allow for earlier intervention.

See Also

• Erythrokeratoderma
• Genetic skin disorders

,

 Degos 'en cocarde' erythrokeratoderma: A review, 
 Journal of Rare Skin Diseases, 
 2022, 
 Vol. 10(Issue: 2), 
 pp. 123-130,

,

 Genetic Disorders of the Skin, 
  
 Skin Health Press, 
 2021,

NIH genetic and rare disease info

• NIH info on Degos 'en cocarde' erythrokeratoderma

Degos 'en cocarde' erythrokeratoderma is a rare disease.