Acrokeratoelastoidosis of Costa

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ORPHA:38OMIM:101850Q82.8
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8Treatment centers

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Overview

Acrokeratoelastoidosis of Costa (also called AKE or acrokeratoelastoidosis) is a rare inherited skin condition that mainly affects the hands and feet. The name comes from Greek and Latin words meaning 'hardening of the skin at the extremities with loss of elastic fibers.' It was first described by the dermatologist Costa in 1953. In this condition, the skin develops small, firm, yellowish or skin-colored bumps (called papules) along the edges of the palms and soles, as well as on the fingers and toes. These bumps form because the elastic fibers in the skin break down and the outer layer of skin thickens abnormally. The condition is not life-threatening and does not affect internal organs. It tends to appear in childhood or early adulthood and usually stays stable over time, meaning it does not dramatically worsen. There is no cure, but treatments can help manage the appearance and discomfort of the skin changes. Moisturizers, keratolytic creams (which soften thickened skin), and retinoids (vitamin A-based medicines) are the main options used by dermatologists to help manage symptoms.

Also known as:

Key symptoms:

Small, firm, yellowish or skin-colored bumps on the edges of the palms and solesBumps along the sides of the fingers and toesThickened skin on the hands and feetMild itching or discomfort in affected areasDry, rough skin texture on the palms and solesBumps that may slowly increase in number over timeNo blistering or open soresCosmetic concern due to visible skin changes

Clinical phenotype terms (12)— hover any for plain English
Fragmented elastic fibers in the dermisHP:0025167Hyperkeratotic papuleHP:0045059GranulomatosisHP:0002955HypergranulosisHP:0025114Yellow papuleHP:0025507OrthokeratosisHP:0040162Palmar hyperhidrosisHP:0006089Piezogenic pedal papulesHP:0025509
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Acrokeratoelastoidosis of Costa.

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No actively recruiting trials found for Acrokeratoelastoidosis of Costa at this time.

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No specialists are currently listed for Acrokeratoelastoidosis of Costa.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Acrokeratoelastoidosis of Costa.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my diagnosis confirmed by skin biopsy, and what did the biopsy show?,Should other family members be examined or tested for this condition?,What skin care routine and treatments do you recommend for me specifically?,Are there any clinical trials or research studies I could participate in?,Should I see a clinical geneticist or genetic counselor to understand the inheritance in my family?,What signs should prompt me to come back sooner between scheduled appointments?,Will this condition affect other parts of my body over time?

Common questions about Acrokeratoelastoidosis of Costa

What is Acrokeratoelastoidosis of Costa?

Acrokeratoelastoidosis of Costa (also called AKE or acrokeratoelastoidosis) is a rare inherited skin condition that mainly affects the hands and feet. The name comes from Greek and Latin words meaning 'hardening of the skin at the extremities with loss of elastic fibers.' It was first described by the dermatologist Costa in 1953. In this condition, the skin develops small, firm, yellowish or skin-colored bumps (called papules) along the edges of the palms and soles, as well as on the fingers and toes. These bumps form because the elastic fibers in the skin break down and the outer layer of ski

How is Acrokeratoelastoidosis of Costa inherited?

Acrokeratoelastoidosis of Costa follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Acrokeratoelastoidosis of Costa typically begin?

Typical onset of Acrokeratoelastoidosis of Costa is childhood. Age of onset can vary across affected individuals.