Erythrokeratodermia variabilis, Mendes da Costa type

Erythrokeratodermia variabilis, Mendes da Costa type
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Synonyms	Erythrokeratodermia variabilis et progressiva
Pronounce	N/A
Specialty	N/A
Symptoms	Red patches, thickened skin
Complications	N/A
Onset	Infancy or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Erythrokeratodermia variabilis, Mendes da Costa type (EKV) is a rare genodermatosis characterized by transient erythematous patches and fixed keratotic plaques on the skin. It is a subtype of erythrokeratodermia variabilis et progressiva, a group of disorders that affect the skin's ability to maintain its normal appearance and function.

Clinical Presentation

EKV typically presents in infancy or early childhood. The hallmark features include:

• Erythematous Patches: These are well-demarcated, transient red patches that can change in shape and location over hours to days.
• Keratotic Plaques: Fixed, thickened areas of skin that may have a yellowish or brownish hue.

The distribution of these skin changes can vary widely among individuals, but they often affect the extremities, buttocks, and face.

Genetics

EKV is primarily caused by mutations in the GJB3 or GJB4 genes, which encode connexin proteins involved in cell communication. These mutations disrupt the normal function of gap junctions in the skin, leading to the characteristic symptoms of the disorder.

Diagnosis

Diagnosis of EKV is based on clinical evaluation and can be confirmed by genetic testing to identify mutations in the GJB3 or GJB4 genes. A skin biopsy may also be performed to rule out other conditions.

Management

There is no cure for EKV, and treatment is primarily symptomatic. Management strategies include:

• Emollients and Keratolytics: To soften and reduce scaling of the skin.
• Topical Corticosteroids: To reduce inflammation and erythema.
• Retinoids: Both topical and systemic retinoids may be used to improve skin appearance.

Patients with EKV should be monitored regularly by a dermatologist to manage symptoms and prevent complications.

Prognosis

The condition is lifelong, but the severity of symptoms can vary. Some individuals may experience significant improvement with age, while others may have persistent symptoms.

Also see

• Genodermatosis
• Connexin
• Keratoderma
• Ichthyosis

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