Anonychia with flexural pigmentation

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ORPHA:69125OMIM:106750Q84.3
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8Treatment centers

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Overview

Anonychia with flexural pigmentation is a very rare inherited skin condition. The name describes its two main features: 'anonychia' means being born without fingernails or toenails (or having very underdeveloped nails), and 'flexural pigmentation' refers to dark patches of skin that appear in the body's fold areas — such as the armpits, groin, and behind the knees. This condition is sometimes referred to simply by its Orphanet code or grouped under congenital nail disorders. People with this condition are typically born with absent or severely underdeveloped nails on some or all fingers and toes. The darkened skin patches in the skin folds usually become noticeable in early childhood or infancy. Beyond these two main features, the condition does not appear to affect internal organs or cause intellectual disability, meaning most people can live full and healthy lives. There is currently no cure for anonychia with flexural pigmentation. Treatment focuses on managing symptoms — for example, protecting the fingertips where nails are absent and using cosmetic or dermatological approaches for the skin pigmentation. Because this condition is so rare, most of what is known comes from a very small number of reported cases in the medical literature.

Key symptoms:

Absent or severely underdeveloped fingernailsAbsent or severely underdeveloped toenailsDark patches of skin in body fold areas (armpits, groin, behind knees)Sensitive or exposed fingertips due to missing nailsPossible skin thickening in affected fold areas

Clinical phenotype terms (13)— hover any for plain English
Alopecia of scalpHP:0002293Abnormal nipple morphologyHP:0004404Axillary and groin hyperpigmentation and hypopigmentationHP:0007471Follicular hyperkeratosisHP:0007502Macular telangiectasiaHP:0030503Abnormal skin morphology of the palmHP:0040211Abnormality of the plantar skin of footHP:0100872
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Anonychia with flexural pigmentation.

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No actively recruiting trials found for Anonychia with flexural pigmentation at this time.

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No specialists are currently listed for Anonychia with flexural pigmentation.

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 Anonychia with flexural pigmentation.

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Community

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Caregiver Resources

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.What genetic tests should we do to confirm the diagnosis and find the cause?,Are there any other health problems we should watch for with this condition?,What can we do to protect my child's fingertips where nails are missing?,Are there any treatments to reduce the dark skin patches in the fold areas?,What is the chance that other family members or future children could be affected?,Should we see any other specialists, such as a psychologist or occupational therapist?,Are there any research studies or registries we can join to help advance understanding of this condition?

Common questions about Anonychia with flexural pigmentation

What is Anonychia with flexural pigmentation?

Anonychia with flexural pigmentation is a very rare inherited skin condition. The name describes its two main features: 'anonychia' means being born without fingernails or toenails (or having very underdeveloped nails), and 'flexural pigmentation' refers to dark patches of skin that appear in the body's fold areas — such as the armpits, groin, and behind the knees. This condition is sometimes referred to simply by its Orphanet code or grouped under congenital nail disorders. People with this condition are typically born with absent or severely underdeveloped nails on some or all fingers and t

How is Anonychia with flexural pigmentation inherited?

Anonychia with flexural pigmentation follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Anonychia with flexural pigmentation typically begin?

Typical onset of Anonychia with flexural pigmentation is neonatal. Age of onset can vary across affected individuals.