Tuberous sclerosis complex (TSC) is a rare, autosomal dominant multisystem disorder affecting the brain, heart, kidneys, lungs, and skin leading to significant morbidity and mortality. We report a case of TSC and highlight the need for prompt diagnosis and proper surveillance to minimize life‑threatening complications. A 20‑year‑old female presented with facial and ungual papulonodular lesions 4 years after being diagnosed with epilepsy at the age of eight. No family history of genetic diseases was reported. Eight years later, the patient developed recurrent cough, shortness of breath, and blurring of vision. Biopsy of facial and digital nodule showed angiofibroma and ungual fibroma (Koenen tumor), respectively. Chest computed tomography scan revealed extensive cystic lesions diffusely scattered throughout the entire lung parenchyma suggestive of lymphangioleiomyomatosis. Cranial MRI revealed cortical and subependymal tubers, compatible with TSC. The patient had multidisciplinary management. However, her symptoms progressed, and she eventually succumbed to death. Cutaneous lesions such as facial angiofibromas and ungual fibromas along with multisystemic manifestations should alarm the clinician to TSC. Given its highly variable expressivity, awareness of different TSC‑associated signs and symptoms is essential for prompt diagnosis, proper treatment, disease monitoring, and early recognition of TSC complications.
Angiofibroma ; Lymphangioleiomyomatosis ; Tuberous Sclerosis

Objective:To investigate the surgical approach for the resection of juvenile nasopharyngeal angiofibroma（JNA） under nasal endoscopy. Methods:The clinical data of 87 patients undergoing endoscopic resection of nasopharyngeal fibroangioma were retrospectively analyzed. We classified JNA according to tumor site, size, invasion scope and anatomic position relationship between tumor and midline of pupil. Three endoscopic surgical approaches were selected according to the classification, and the postoperative symptoms, complications and recurrence were investigated and analyzed. Results:The tumor resection rate of 87 cases by nasal endoscopic surgery was 100%. Thirty-five cases were approached through the middle nasal passage（small tumors located in the nasal sinuses and pterygopalatine fossa）, forty-five cases were approached through the lateral wall of the nasal cavity（tumor invaded the pterygopalatine fossa but did not exceed the midline of the pupil） , and seven cases were approached via the lateral wall of nasal cavity + ipsilateral anterior wall of maxillary sinus（tumor invaded the infratemporal fossa beyond the midline of pupil or invaded the cavernous sinus and the middle cranial fossa epidural）, Postoperative patients with nasal congestion, nasal bleeding, headache, dizziness, vision loss and other symptoms showed varying degrees of improvement. No surgical death or intracranial infection occurred. The postoperative follow-up was 6-78 months, and the recurrence rate was 3.44%. Conclusion:Endoscopic resection of nasopharyngeal fibroangioma is the main treatment method for JNA. Selecting suitable endoscopic approach to resect JNA, To maximize the advantage of nasal endoscopic equipment according to the inherent anatomical space of the human nasal cavity, In order to achieve the purpose of JNA resection, reduce intraoperative and postoperative complications, reduce the recurrence rate and improve the prognosis.
Humans ; Angiofibroma/pathology* ; Retrospective Studies ; Nasopharyngeal Neoplasms/pathology* ; Endoscopy/methods* ; Prognosis

Angiofibromas are highly vascular, locally aggressive but histologically benign tumors. A 40-year-old woman complaint of pedunculated mass in the right gingiva of the posterior region since 7 months earlier. Surgical excisional biopsy under general anesthesia was performed. Histopathological examination showed an angiofibroma. Angiofibromas are localized in the superficial soft tissue and the gingiva could have a similar clinical appearance as an epulis. Definitive diagnosis was determined through histopathological analysis.
Angiofibroma

Angiofibroma/surgery* ; Endoscopy ; Humans ; Nasopharyngeal Neoplasms/surgery* ; Retrospective Studies

Angiofibroma/surgery* ; Endoscopy ; Humans ; Nasopharyngeal Neoplasms/surgery* ; Nasopharynx ; Nose

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder with an incidence of approximately 1 in 5,000 to 10,000 live births. TSC has various clinical manifestations such as multiple hamartomas in systemic organs, including the skin. Angiofibromas are the most common skin lesions in patients with TSC. Although benign, angiofibromas develop in childhood and puberty, and can be psychosocially disfiguring for patients. Skin lesions in TSC, specifically angiofibromas, have no significant risk of malignant transformation after puberty; thus, they require no treatment if not prominent. However, the presentation of TSC is important owing to its impact on patient cosmesis. Surgical treatment and laser therapy are the mainstream treatments for angiofibromas. Although the evidence is limited, topical mammalian target of rapamycin inhibitors such as sirolimus (rapamycin) are effective in facial angiofibroma treatment. We describe an adult patient with an angiofibroma who had an excellent response to treatment with topical rapamycin after a single session of carbon dioxide (CO₂) laser ablation. The patient showed no sign of relapse or recurring lesions for a year. CO₂ laser ablation may serve as a new paradigm of treatment for angiofibromas in TSC. Since the selection of laser devices can be limited for some institutions, we suggest a rather basic but highly effective approach for angiofibroma treatment that can be generally applied with the classic CO₂ device.
Adolescent ; Adult ; Angiofibroma ; Carbon Dioxide ; Hamartoma ; Humans ; Incidence ; Laser Therapy ; Live Birth ; Methods ; Neurocutaneous Syndromes ; Puberty ; Recurrence ; Sirolimus ; Skin ; Tuberous Sclerosis

The characteristics of extra-nasopharyngeal angiofibromas tend to be different from angiofibromas of the nasopharynx according to patient gender, patient age, prevalence, affected site, pathogenesis, and clinical and epidemiological features. We report a case of an extra-nasopharyngeal angiofibroma in a 28-year-old man referred to the ENT Clinic for right-sided epistaxis, airflow impairment and nasal swelling. The right nostril was completely occluded works by a reddish-yellow mass that bled easily. The computed tomography scan revealed an “inhomogeneous solid lesion in the nasal fossa”. With the patient under general anesthesia, the formation in the anterior portion of the right side of the nasal septum was removed up to its vascular base. Although electrical cauterization efficiently controlled the bleeding, we abraded the sub-perichondral area to prevent further bleeding as well as recurrence. The histological exam report confirmed the diagnosis of angiofibroma. As in our case, epistaxis is commonly the presenting sign of angiofibroma. Yet its onset was peculiar, given that the bleeding started with a low impact trauma. The nasal swelling was also a relevant feature as well as the breathing impairment. Although uncommon, nasal septal angiofibromas should considered in patients with epistaxis.
Adult ; Anesthesia, General ; Angiofibroma ; Cautery ; Diagnosis ; Epistaxis ; Hemorrhage ; Humans ; Nasal Septum ; Nasopharynx ; Prevalence ; Recurrence ; Respiration

Objective: To report two cases of extranasopharyngeal angiofibroma, highlighting the diagnostic challenges involved. Methods: Design: Case Report. Setting: Tertiary Teaching Hospital and Medical School. Patients: Two (2). Results: A 13-year-old boy who presented with epistaxis and a vascular mass on the posterior nasal septum that enhanced on contrast-enhanced computed tomography (CECT), and a 3-year-old boy who presented with dysphagia and mild respiratory difficulty, with a large naso-oropharyngeal mass arising from the soft palate on physical and x-ray examination that could not be corroborated because stridor developed during sedation for CECT, both underwent endoscopic tumor excision. Conclusion As illustrated in these cases, atypical presentations of extranasopharyngeal angiofibromas can pose a considerable diagnostic and surgical challenge for clinicians.
Angiofibroma, Classification ; Diagnosis ; Diagnostic Imaging

Angiofibroma/surgery* ; Epididymis/surgery* ; Genital Neoplasms, Male/surgery* ; Humans ; Immunohistochemistry ; Male ; Middle Aged

BACKGROUND AND OBJECTIVES: The main treatment modality of sinonasal benign tumor is surgical resection, and the endoscopic intranasal approach has been commonly performed since the 1990s. The objective of this study was to evaluate the recurrence rates of different sinonasal benign tumors and to analyze the diverse approaches used in their surgical treatment. SUBJECTS AND METHOD: In 270 patients who were histopathologically diagnosed with sinonasal benign tumor during a period of 20 years, histopathologic type, treatment approach, interval between first treatment and recurrence, and recurrence rate according to treatment approach were analyzed. RESULTS: Recurrence rate was higher with the intranasal approach than with the extranasal approach in inverted papilloma and angiofibroma, but the differences were not statistically significant. The proportion of the intranasal approach during the latter 10 years was higher than that during the former 10 years. There was no significant differences between the recurrence rate during the former 10 years and that during the latter 10 years for both intranasal and extranasal approaches. CONCLUSION: Based on tumor location and stage and skill of the surgeon, the intranasal approach can replace the extranasal approach with no major changes in treatment outcome.
Angiofibroma ; Humans ; Methods ; Nasal Cavity ; Nose Neoplasms ; Papilloma, Inverted ; Paranasal Sinus Neoplasms ; Paranasal Sinuses ; Recurrence ; Treatment Outcome