Cysts and fistulae of the face and oral cavity

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ORPHA:155835
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Overview

Cysts and fistulae of the face and oral cavity (Orphanet code 155835) is a group of rare developmental anomalies that arise from embryological remnants or abnormal development of the branchial arches, facial clefts, or oral structures during fetal life. These lesions include a variety of congenital cysts (fluid-filled sacs) and fistulae (abnormal passages or tracts) that can occur in various locations of the face and oral cavity, such as the lips, cheeks, palate, tongue, floor of the mouth, and along the jaw or neck. Common entities within this group include dermoid cysts of the floor of the mouth, nasolabial cysts, median palatine cysts, thyroglossal duct cysts, branchial cleft cysts and fistulae, and congenital lip pits or fistulae, among others. Clinically, patients may present with visible or palpable swellings on the face or within the oral cavity, intermittent drainage of mucoid or purulent fluid from fistulous openings, recurrent infections, pain, or cosmetic concerns. In some cases, larger cysts can cause difficulty with breathing, swallowing, or speech, particularly when located in the floor of the mouth or near the airway. Many of these lesions are present at birth or become apparent during childhood, though some may not manifest until later in life. The severity and specific symptoms depend on the type, size, and location of the cyst or fistula. Diagnosis is typically based on clinical examination, imaging studies (such as ultrasound, CT, or MRI), and histopathological analysis following excision. The primary treatment for most cysts and fistulae of the face and oral cavity is surgical excision, which is generally curative when complete removal of the cyst lining or fistulous tract is achieved. Recurrence can occur if excision is incomplete. In cases complicated by infection, antibiotic therapy may be required prior to definitive surgery. Most of these conditions are sporadic developmental anomalies, though some (such as congenital lip pits) may occur as part of hereditary syndromes. Long-term prognosis is generally favorable following appropriate surgical management.

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Cysts and fistulae of the face and oral cavity.

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No actively recruiting trials found for Cysts and fistulae of the face and oral cavity at this time.

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No specialists are currently listed for Cysts and fistulae of the face and oral cavity.

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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 Cysts and fistulae of the face and oral cavity.

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Community

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Common questions about Cysts and fistulae of the face and oral cavity

What is Cysts and fistulae of the face and oral cavity?

Cysts and fistulae of the face and oral cavity (Orphanet code 155835) is a group of rare developmental anomalies that arise from embryological remnants or abnormal development of the branchial arches, facial clefts, or oral structures during fetal life. These lesions include a variety of congenital cysts (fluid-filled sacs) and fistulae (abnormal passages or tracts) that can occur in various locations of the face and oral cavity, such as the lips, cheeks, palate, tongue, floor of the mouth, and along the jaw or neck. Common entities within this group include dermoid cysts of the floor of the m