Infantile digital fibromatosis

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ORPHA:199267M72.8
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15Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Infantile digital fibromatosis, also known as inclusion body fibromatosis or Reye tumor, is a rare benign fibrous tumor that occurs almost exclusively in infants and young children. The condition is characterized by the development of firm, smooth, dome-shaped nodules on the fingers and toes, typically sparing the thumbs and great toes. These nodules arise from myofibroblasts and are distinguished histologically by the presence of characteristic perinuclear eosinophilic cytoplasmic inclusion bodies composed of actin filaments. The tumors primarily affect the soft tissues of the digits, usually appearing on the dorsal or lateral surfaces of the fingers and toes. They are generally painless but can cause functional impairment, including limited joint mobility and digit deformity, depending on their size and location. The nodules may be present at birth or develop within the first few years of life, and multiple lesions may occur simultaneously or sequentially. The condition does not metastasize and is not associated with systemic disease. The natural history of infantile digital fibromatosis is notable for a tendency toward spontaneous regression over time, which has increasingly influenced management strategies. Treatment options include observation (watchful waiting), surgical excision, and intralesional corticosteroid injections. Surgical excision has historically been the primary treatment; however, recurrence rates following surgery are high, reported in up to 60% of cases. Given the benign nature and potential for spontaneous resolution, conservative management with observation is now often recommended as the first-line approach, reserving surgical intervention for cases with significant functional impairment or cosmetic concern.

Also known as:

Clinical phenotype terms— hover any for plain English:

ParakeratosisHP:0001036
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Infantile digital fibromatosis.

View clinical trials →

No actively recruiting trials found for Infantile digital fibromatosis at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Infantile digital fibromatosis community →

Specialists

15 foundView all specialists →
MA
Maria C Annunziata
Specialist
1 Infantile digital fibromatosis publication
MS
Massimiliano Scalvenzi
Specialist
1 Infantile digital fibromatosis publication
Z&
Zeynep Canan Özdemir
Specialist
1 Infantile digital fibromatosis publication
ET
Ersin Töret
Specialist
1 Infantile digital fibromatosis publication
MD
Mohammed Dany
RICHMOND, VA
Specialist
1 Infantile digital fibromatosis publication
ST
Shant Tamazian
FISHKILL, NY
Specialist
1 Infantile digital fibromatosis publication
JW
Joy Wan
BALTIMORE, MD
Specialist
1 Infantile digital fibromatosis publication
MJ
Melinda Jen
PHILADELPHIA, PA
Specialist
1 Infantile digital fibromatosis publication
AR
Adam Ian Rubin
Specialist
1 Infantile digital fibromatosis publication
ER
E Rodríguez-Lomba
Specialist
1 Infantile digital fibromatosis publication
BL
B Lozano-Masdemont
Specialist
1 Infantile digital fibromatosis publication
MC
M Campos-Domínguez
Specialist
1 Infantile digital fibromatosis publication
LC
Luca Costanzo
Specialist
1 Infantile digital fibromatosis publication
VG
Vincenzo Greco
CHEVY CHASE, MD
Specialist
1 Infantile digital fibromatosis publication
RG
Rama Godse
ANN ARBOR, MI
Specialist
1 Infantile digital fibromatosis publication

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 Infantile digital fibromatosis.

Search all travel grants →NORD Financial Assistance ↗

Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Infantile digital fibromatosis

What is Infantile digital fibromatosis?

Infantile digital fibromatosis, also known as inclusion body fibromatosis or Reye tumor, is a rare benign fibrous tumor that occurs almost exclusively in infants and young children. The condition is characterized by the development of firm, smooth, dome-shaped nodules on the fingers and toes, typically sparing the thumbs and great toes. These nodules arise from myofibroblasts and are distinguished histologically by the presence of characteristic perinuclear eosinophilic cytoplasmic inclusion bodies composed of actin filaments. The tumors primarily affect the soft tissues of the digits, usuall

How is Infantile digital fibromatosis inherited?

Infantile digital fibromatosis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Infantile digital fibromatosis typically begin?

Typical onset of Infantile digital fibromatosis is infantile. Age of onset can vary across affected individuals.

Which specialists treat Infantile digital fibromatosis?

15 specialists and care centers treating Infantile digital fibromatosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.