Acrokeratoelastoidosis

Acrokeratoelastoidosis

Article
Skin Care
Diseases & Conditions
+1
Contributed byLester Fahrner, MD+1 moreApr 17, 2021

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

  • Acrokeratoelastoidosis of Costa
  • Collagenous Plaques of Hand and Feet
  • PPKP3 (Palmoplantar Keratoderma, Punctate Type III)

What is Acrokeratoelastoidosis? (Definition/Background Information)

  • Acrokeratoelastoidosis (AKE) is a rare, benign skin condition, wherein there is warty papules affecting the hands and feet, typically on the sides. It is an inherited genetic disorder in most cases
  • Acrokeratoelastoidosis is described as a type of punctate palmoplantar keratoderma (specifically, type 3). Palmoplantar keratoderma (PPK) is a benign condition, wherein there is thickening of skin (keratoderma) of the palms and/or soles
  • The condition may be caused due to genetic mutations. And therefore, a family history of Acrokeratoelastoidosis is a risk factor. It is also associated with conditions such as localized scleroderma and systemic sclerosis
  • A diagnosis of Acrokeratoelastoidosis can be made by clinical exam, skin exam, and various other diagnostic tools including dermoscopy and wood’s lamp examination
  • Currently, Acrokeratoelastoidosis is an incurable skin condition. Nevertheless, the treatment of the affected skin may include the use of moisturizers, topical creams, and skin softeners
  • The prognosis depends upon the severity of the symptoms. Generally, the symptoms are known to subside following puberty and the prognosis is typically good

Who gets Acrokeratoelastoidosis? (Age and Sex Distribution)

  • Acrokeratoelastoidosis may be observed in a wide age range of individuals including in children and adults
  • Even though it is an inherited condition, the signs and symptoms are not manifested until early childhood or pubertal stage
  • The condition affects both males and females, but a female predominance is generally noted
  • It is seen worldwide and all racial and ethnic groups may be affected

What are the Risk Factors for Acrokeratoelastoidosis? (Predisposing Factors)

The main risk factor for Acrokeratoelastoidosis includes a positive family history of AKE. It is also known to be associated with the following conditions:

  • Localized scleroderma
  • Systemic sclerosis

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s 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 Acrokeratoelastoidosis? (Etiology)

Acrokeratoelastoidosis is a genetic disorder with a hereditary origin, in most cases.

  • It is caused by genetic mutations, which are passed down through families in an autosomal dominant pattern
  • In some rare cases, the condition is sporadic, indicating that a prior family history is not present

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene and the condition on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Acrokeratoelastoidosis?

The signs and symptoms associated with Acrokeratoelastoidosis may include:

  • The presence of small bumps on the sides of the hands and feet
  • The small papules look like warts, 2-5 mm in size
  • Usually both sides of the hands and feet are involved; but rarely, only one side may be affected
  • Hair and nails are not affected
  • The symptoms typically appear during childhood and puberty, but are not present at birth
  • Within families (i.e., among family members), the severity of signs and symptoms may vary

How is Acrokeratoelastoidosis Diagnosed?

The diagnosis of Acrokeratoelastoidosis may involve:

  • A complete evaluation of medical history (including family medical history) along with a thorough examination of the skin lesions by a dermatologist
  • 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
  • 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
  • The following skin conditions may be ruled out by performing a differential diagnosis, prior to arriving at a definite diagnosis:
    • Keratoelastoidosis marginalis
    • Focal acral hyperkeratosis

Note: A skin biopsy may show damage to the elastic fibers of the skin.

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 Acrokeratoelastoidosis?

Complications associated with Acrokeratoelastoidosis may include the following:

  • Emotional stress due to the skin condition
  • Cosmetic concerns
  • The skin condition may get progressively worse until puberty (age 12-13 years)

How is Acrokeratoelastoidosis Treated?

There is no cure for Acrokeratoelastoidosis; however, the skin symptoms may be addressed through treatment measures such as:

  • Administration of keratolytics (medicine containing salicylic acid)
  • Use of moisturizing creams and lotions

How can Acrokeratoelastoidosis be Prevented?

Currently, Acrokeratoelastoidosis (AKE) is a genetic disorder that cannot be prevented. However, 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 such as AKE

What is the Prognosis of Acrokeratoelastoidosis? (Outcomes/Resolutions)

The prognosis of Acrokeratoelastoidosis may depend on the severity of the signs and symptoms. In most cases, the prognosis is good with appropriate treatment.

  • In many children, the symptoms are known to stabilize after puberty
  • Regular follow up visits with the healthcare provider are important and encouraged 

Additional and Relevant Useful Information:

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.

Was this article helpful

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

0 Comments

Please log in to post a comment.

Related Articles

Test Your Knowledge

Asked by users

Related Centers

Loading

Related Specialties

Loading card

Related Physicians

Related Procedures

Related Resources

Join DoveHubs

and connect with fellow professionals

Related Directories

Who we are

At DoveMed, our utmost priority is your well-being. We are an online medical resource dedicated to providing you with accurate and up-to-date information on a wide range of medical topics. But we're more than just an information hub - we genuinely care about your health journey. That's why we offer a variety of products tailored for both healthcare consumers and professionals, because we believe in empowering everyone involved in the care process.
Our mission is to create a user-friendly healthcare technology portal that helps you make better decisions about your overall health and well-being. We understand that navigating the complexities of healthcare can be overwhelming, so we strive to be a reliable and compassionate companion on your path to wellness.
As an impartial and trusted online resource, we connect healthcare seekers, physicians, and hospitals in a marketplace that promotes a higher quality, easy-to-use healthcare experience. You can trust that our content is unbiased and impartial, as it is trusted by physicians, researchers, and university professors around the globe. Importantly, we are not influenced or owned by any pharmaceutical, medical, or media companies. At DoveMed, we are a group of passionate individuals who deeply care about improving health and wellness for people everywhere. Your well-being is at the heart of everything we do.

© 2023 DoveMed. All rights reserved. It is not the intention of DoveMed to provide specific medical advice. DoveMed urges its users to consult a qualified healthcare professional for diagnosis and answers to their personal medical questions. Always call 911 (or your local emergency number) if you have a medical emergency!