Hyperkeratosis lenticularis perstans

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ORPHA:409OMIM:144150L98.8
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Overview

Hyperkeratosis lenticularis perstans, also known as Flegel disease, is a rare skin condition that causes small, hard, scaly bumps to form on the skin. These bumps, called hyperkeratotic papules, are usually reddish-brown or skin-colored and range from 1 to 5 millimeters in size. They most commonly appear on the tops of the feet and lower legs, but can also show up on the hands, arms, and other parts of the body. When the scale is removed, the skin underneath may bleed slightly and feel sore. The condition tends to develop in adulthood and persists throughout life, which is why it is called 'perstans' — meaning lasting or persistent. It is not contagious and does not affect internal organs. The exact cause is not fully understood, but it is believed to involve problems with how the outer layer of skin grows and sheds normally. There is no cure for Flegel disease. Treatment focuses on managing symptoms and improving the appearance of the skin. Options include moisturizers, keratolytic creams (which help soften and remove the scaly skin), topical retinoids, and in some cases oral retinoids. The condition is generally not dangerous to overall health, but it can cause discomfort and affect a person's confidence and quality of life.

Also known as:

Key symptoms:

Small, hard, scaly bumps on the skin (usually 1–5 mm)Reddish-brown or skin-colored raised spotsBumps most common on the tops of the feet and lower legsSlight bleeding or soreness when the scale is picked offBumps may also appear on the hands and forearmsSkin feels rough or thickened in affected areasSymptoms persist long-term without going away on their ownMild itching in some peopleCosmetic concern due to visible skin changes

Clinical phenotype terms (7)— hover any for plain English
Squamous cell carcinomaHP:0002860Hyperkeratosis lenticularis perstansHP:0007570
Inheritance

Autosomal dominant

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

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hyperkeratosis lenticularis perstans.

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No actively recruiting trials found for Hyperkeratosis lenticularis perstans at this time.

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No specialists are currently listed for Hyperkeratosis lenticularis perstans.

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 Hyperkeratosis lenticularis perstans.

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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.What treatment do you recommend for my skin bumps, and how long will it take to see results?,Should other members of my family be checked for this condition?,Is genetic testing available or useful for my family?,What should I do if the bumps spread to new areas of my body?,Are there any treatments I should avoid that might make the condition worse?,How will I know if my skin becomes infected, and what should I do if that happens?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Hyperkeratosis lenticularis perstans

What is Hyperkeratosis lenticularis perstans?

Hyperkeratosis lenticularis perstans, also known as Flegel disease, is a rare skin condition that causes small, hard, scaly bumps to form on the skin. These bumps, called hyperkeratotic papules, are usually reddish-brown or skin-colored and range from 1 to 5 millimeters in size. They most commonly appear on the tops of the feet and lower legs, but can also show up on the hands, arms, and other parts of the body. When the scale is removed, the skin underneath may bleed slightly and feel sore. The condition tends to develop in adulthood and persists throughout life, which is why it is called 'p

How is Hyperkeratosis lenticularis perstans inherited?

Hyperkeratosis lenticularis perstans follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Hyperkeratosis lenticularis perstans typically begin?

Typical onset of Hyperkeratosis lenticularis perstans is adult. Age of onset can vary across affected individuals.