Familial primary localized cutaneous amyloidosis

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ORPHA:353220OMIM:105250E85.4+L99.0*
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Overview

Familial primary localized cutaneous amyloidosis (FPLCA) is a rare inherited skin condition in which abnormal protein deposits called amyloid build up in the skin. Unlike systemic amyloidosis, which can affect internal organs like the heart or kidneys, this form stays limited to the skin. The disease runs in families and typically causes intensely itchy skin patches, most often on the shins, arms, and upper back. There are several subtypes, including lichen amyloidosis (small, raised, rough bumps), macular amyloidosis (flat, dark, rippled patches), and biphasic amyloidosis (a combination of both). The itching can be severe and persistent, significantly affecting quality of life and sleep. The condition usually appears in adulthood, though some family members may develop symptoms earlier. The skin changes tend to worsen slowly over time. There is currently no cure for FPLCA. Treatment focuses on relieving itching and improving the appearance of affected skin. Options include strong topical corticosteroids, antihistamines, phototherapy (light therapy), and sometimes laser treatments. Moisturizers and avoiding skin irritation can also help manage symptoms. Because this is a genetic condition, genetic counseling is recommended for affected families to understand the pattern of inheritance and risks to other family members.

Also known as:

Key symptoms:

Intense itching of the skin, especially on the shins and armsSmall, raised, rough bumps on the skin (lichen amyloidosis)Dark, rippled or wavy flat patches on the skin (macular amyloidosis)Thickened or scaly skin in affected areasBrownish or grayish skin discolorationSkin changes on the upper back between the shoulder bladesScratching marks from chronic itchingDry, rough skin texture in affected areasSkin darkening that worsens over timeSleep disruption due to itching

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 Familial primary localized cutaneous amyloidosis.

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No actively recruiting trials found for Familial primary localized cutaneous amyloidosis at this time.

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No specialists are currently listed for Familial primary localized cutaneous amyloidosis.

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 Familial primary localized cutaneous amyloidosis.

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Community

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Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.Which subtype of cutaneous amyloidosis do I have, and does it matter for treatment?,Should my family members be tested for this condition?,What are the best options to control my itching?,Is there any risk that the amyloid could spread to my internal organs?,Are there any clinical trials or new treatments being studied for this condition?,How often should I have follow-up appointments?,Should I see a genetic counselor to discuss inheritance and family planning?

Common questions about Familial primary localized cutaneous amyloidosis

What is Familial primary localized cutaneous amyloidosis?

Familial primary localized cutaneous amyloidosis (FPLCA) is a rare inherited skin condition in which abnormal protein deposits called amyloid build up in the skin. Unlike systemic amyloidosis, which can affect internal organs like the heart or kidneys, this form stays limited to the skin. The disease runs in families and typically causes intensely itchy skin patches, most often on the shins, arms, and upper back. There are several subtypes, including lichen amyloidosis (small, raised, rough bumps), macular amyloidosis (flat, dark, rippled patches), and biphasic amyloidosis (a combination of bo

How is Familial primary localized cutaneous amyloidosis inherited?

Familial primary localized cutaneous amyloidosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial primary localized cutaneous amyloidosis typically begin?

Typical onset of Familial primary localized cutaneous amyloidosis is adult. Age of onset can vary across affected individuals.