Erythrokeratoderma Progressiva Symmetrica

Erythrokeratoderma Progressiva Symmetrica

Article
Skin Care
Diseases & Conditions
+2
Contributed byLester Fahrner, MD+1 moreJan 02, 2022

What are the other Names for this Condition? (Also known as/Synonyms)

  • Progressive Symmetric Erythrokeratoderma (PSEK)
  • Progressive Symmetrical Erythrokeratoderma of Gottron
  • PSEK of Darier-Gottron

What is Erythrokeratoderma Progressiva Symmetrica? (Definition/Background Information)

  • Erythrokeratoderma is a benign skin condition, wherein as the name suggests, the skin is red (erythematous) and thickened with the presence of scaling (or hyperkeratosis). The skin condition is considered to be a pattern of skin findings and not a disease/condition in itself
  • Erythrokeratoderma Progressiva Symmetrica is an uncommon condition, but may be described as a major subtype of erythrokeratoderma. It represents a group of disorders and are caused by inherited or sporadic genetic mutations
  • This slowly-progressing condition is also known as Progressive Symmetric Erythrokeratoderma (PSEK). The signs and symptoms may be present during infancy or early childhood
  • The skin redness and thickening can be focal (localized) or widespread (diffused) and the manifestation is in the form of red flaky plaques or patches. Any part of the body skin may be affected
  • A diagnosis of Erythrokeratoderma Progressiva Symmetrica can be made by clinical exam, skin exam, and various other diagnostic tools including dermoscopy and wood’s lamp examination. Genetic testing to identify the genes associated with the disorder may be undertaken
  • Erythrokeratoderma Progressiva Symmetrica is an incurable condition. The skin condition may be treated using moisturizers, topical creams, and skin softeners
  • The prognosis of Erythrokeratoderma Progressiva Symmetrica depends upon the severity of the symptoms; with adequate treatment, the prognosis is generally good. When the condition is inherited, the signs and symptoms may last a lifetime; while in sporadic cases, a spontaneous regression prior to adulthood may be noticed

Who gets Erythrokeratoderma Progressiva Symmetrica? (Age and Sex Distribution)

  • Erythrokeratoderma Progressiva Symmetrica is a very rare congenital skin disorder; only around 100 cases have been reported so far
  • Even though it has a congenital origin, the signs and symptoms are not present at birth. They develop shortly after the birth of the child or during early childhood
  • No male/female gender, racial, or ethnic group preference is noted

What are the Risk Factors for Erythrokeratoderma Progressiva Symmetrica? (Predisposing Factors)

  • A positive family history of Erythrokeratoderma Progressiva Symmetrica is a risk factor for the condition to be inherited
  • In case no preceding family history is noted, then the risk factors are generally unknown

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Erythrokeratoderma Progressiva Symmetrica? (Etiology)

Erythrokeratoderma Progressiva Symmetrica is a genetic condition that may have a familial inheritance pattern (observed in some cases) or be sporadic in occurrence. Congenital cases usually follow an autosomal dominant pattern of inheritance.

  • Presently, the exact genes involved in this disorder remains unidentified
  • An overlap with other skin conditions (notably erythrokeratoderma variabilis) is observed. But, since only a few isolated cases have been identified with involvement of the GJB4 gene, the findings are currently inconclusive
  • In a majority of cases, sporadic ‘new’ mutations are noted. The sporadic mutations can become inherited in subsequent generations

Progressive Symmetric Erythrokeratoderma is not a contagious condition and it does not spread from one individual to another via physical contact.

What are the Signs and Symptoms of Erythrokeratoderma Progressiva Symmetrica?

The signs and symptoms of Erythrokeratoderma Progressiva Symmetrica develop slowly in infants and young children. The severity and range of signs and symptoms can vary from one individual to another. The variation may be present within members of the same family too.

The skin signs and symptoms associated with Erythrokeratoderma Progressiva Symmetrica may include:

  • Red or red-brown flaky or rough skin that can occur anywhere in the body in the form of plaques; a symmetric pattern of presentation (uniform formation) on both sides of the body may be seen
  • The usual body sites for these ‘fixed’ plaques are the face, limbs (frequently), and the buttocks; occasionally, the trunk may be involved
  • Palmoplantar keratoderma, wherein there is thickening of skin of the palms and/or soles, is also seen in a few cases
  • In some children, the skin condition is localized; while in others, it may be generalized or widespread
  • Other parts of the body or organs are not affected; the overall health and mental growth is unaffected
  • In some individuals, the skin lesions may itch and/or present burning sensations
  • Scratching the skin lesions may result in bleeding and ulceration
  • The skin lesions develop over time and tend to slowly recede during late childhood, in some children. In between, and sometimes, a waxing and waning of signs and symptoms may be observed

How is Erythrokeratoderma Progressiva Symmetrica Diagnosed?

The diagnosis of Erythrokeratoderma Progressiva Symmetrica may involve the following tests and exams:

  • A complete evaluation of medical history along with a thorough examination of the skin lesions by a dermatologist
  • The healthcare provider may also ask many questions related to the individual’s age, family medical history, current medications, cosmetics, body lotions used, other medical conditions, infections, etc.
  • Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
  • Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
  • Genetic tests and analysis to identify the genes involved (when possible)
  • Skin biopsy: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Erythrokeratoderma Progressiva Symmetrica?

The complications associated with Erythrokeratoderma Progressiva Symmetrica may include the following:

  • In some individuals, it can cause severe emotional stress and cosmetic concerns
  • Bleeding and ulceration can result in secondary bacterial and fungal infections
  • Permanent scarring of skin
  • The quality of life may be affected, especially for school-going children

How is Erythrokeratoderma Progressiva Symmetrica Treated?

Generally, there is no cure for Erythrokeratoderma Progressiva Symmetrica. However, the skin condition/skin lesions may be addressed through skin softening treatment measures such as:

  • Use of skin moisturizing creams and lotions; ointments containing vitamin D
  • Steroid creams, topical retinoids
  • Oral retinoid therapy
  • Keratolytic therapy: It involves treatment using a variety of medications, such as salicylic acid, urea, lactic acid, benzoyl peroxide, which helps with thickened skin due to scaling

Typically, in most children (with sporadic gene mutations), the signs and symptoms stabilize as they grow into adults.

How can Erythrokeratoderma Progressiva Symmetrica be Prevented?

Erythrokeratoderma Variabilis may not be preventable in a majority of individuals. However, in case of an inherited condition, the following may be considered:

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Erythrokeratoderma Progressiva Symmetrica? (Outcomes/Resolutions)

  • The prognosis of Erythrokeratoderma Progressiva Symmetrica usually depends upon the severity of its signs and symptoms
  • The signs and symptoms in sporadic cases are known to subside and stabilize into early adulthood or late childhood, while familial cases may be present throughout one’s lifetime
  • The skin condition can cause emotional stress in children, but the overall growth and development (both physical and mental) of the child is generally not affected
  • Regular follow up visits with the healthcare providers are important

Additional and Relevant Useful Information for Erythrokeratoderma Progressiva Symmetrica:

Cleaning the skin too hard with strong chemicals or soaps may aggravate the skin condition. Care must be taken avoid strong soaps and chemicals that could potentially worsen the condition.

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On the Article

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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