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.
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Cysts and fistulae of the face and oral cavity.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA 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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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