Angiofibroma Research Articles

Blindness in Tuberous Sclerosis: A Case Report

Tuberous sclerosis (TS) is inherited as an autosomal dominant trait with variable penetrance characterised by glial cell tumor which arises from the cerebral and the retina. Blindness in association with Tuberous sclerosis (TS) is rare. When visual loss occurs it may be associated with hamartomas from retinal or optic nerve involvement or from intracranial (brain) tumours that affect either the part of the brain that processes visual information or from optic nerve damage following raised intracranial pressure. Very few cases of TS with blindness have been reported globally. Deterioration in academic performance might be the first pointer to the visual impairment. We report a case of a 13 year old girl who presented with increasing number of facial rash over an 11 years period, recurrent headache and deteriorating academic performance of 1 year and loss of vision of 6 months with a recent episode of convulsion. Similar skin rashes without other associated symptoms were noticed on the mother and one of the younger siblings. She was a Tanner stage one in development. She had facial angio fibromas, shagreen patches over the left hypochondria, back regions and face. Ophthalmic evaluation showed a visual acuity of being able to count fingers at not more than one meter from the face and only perception of light in the right and left eye respectively, both eyes had brisk pupillary activities, good mydriasis and clear media. The retinal and optic nerve head appeared normal in the right eye whereas in the left eye was a huge tuberous hamartoma of the optic disc and macular as well as generalised vascular occlusion and subretinal fluid. The Computerized tomography (CT) scan showed an Intraventricular tumour, with calcification within the tumours and subependymal. There was associated obstructive hydrocephalus. Patient was managed by a multi disciplinary team of ophthalmologists, neurosurgeons and radiologists, coordinated by a paediatrician. Conclusion: The diagnosis of tuberous sclerosis complex (TSC) was based on the lesions found on clinical examination, imaging, and pathologic studies. The blindness was multi-factorial in cause including intracranial, retinal and optic nerve tumours. Comprehensive medical history, detailed physical examinations and neuroimaging study are essential in making a diagnosis of TSC. Our patient was mis-diagnosed at various health facilities for many years. This delay in making appropriate diagnosis and instituting treatment could have contributed to the eventual outcome. Keywords: Tuberous Sclerosis, Blindness, Deteriorating Academic Performance

Efficacy of ultrapulse carbon dioxide laser for the treatment of facial angiofibroma in patients with tuberous sclerosis: an observatioal study

Objective To estimate the clinical efficacy and adverse effects of ultrapulse carbon dioxide laser for the treatment of facial angiofibroma in tuberous sclerosis patients, and to observe the recurrence of facial angiofibroma in the patients after treatment with ultrapulse carbon dioxide laser. Methods Thirty-six tuberous sclerosis patients with facial angiofibroma were enrolled in this study. Ultrapulse carbon dioxide laser(Ultrapulse Encore)was used for the treatment of facial angiofibroma in these patients. Laser parameters were selected according to the type of skin lesions. Results Finally, 28 patients who received single irradiation treatment and completed 6-month follow up were evaluated for efficacy and safety. Of the 28 patients, 10 were cured, 10 showed marked response, 5 response, 3 no response, and 18 experienced recurrence, with the response rate, marked response rate and recurrence rate being 89.3%, 71.4% and 64.3% respectively. Patients with a relatively small number of sparsely distributed primary lesions showed a relatively good response. There was no significant correlation between the response rate and patients′ age, gender or medical history(all P> 0.05). No permanent pigmentation, depigmentation, atrophy or hyperplastic scar was observed in any of these 36 patients. Conclusions Ultrapulse carbon dioxide laser is effective for the treatment of facial angiofibroma in tuberous sclerosis patients with few adverse effects but high recurrence risk. There seems to be a relatively good response to ultrapulse carbon dioxide laser in patients with a small number of primary lesions. Key words: Lasers, gas; Tuberous sclerosis; Face; Angiofibroma; Treatment outcome

Genotype-phenotype correlation between TSC1 and TSC2 associated tuberous sclerosis complex

Objective To investigate the genotype-phenotype correlation between TSC1 and TSC2 associated tuberous sclerosis complex(TSC). Methods Nineteen infants with TSC were enrolled in the study.Their clinical ma-nifestations and mutations of TSC gene were analyzed by chip capturing and next-generation sequencing. Results Among the total of 19 patients with TSC, 13 TSC2 mutations and 4 TSC1 mutations were detected.The ratio of TSC2/TSC1 mutation-positive cases was 3.4/1.Six mutations were novel.There were epilepsy in 10 cases carrying TSC2 mutations, including 4 cases(31%)with refractory to antiepileptic treatment, and 3 cases carrying TSC1 mutations, including 1 case(25%)with refractory to antiepileptic treatment.The incidence and severity(grade 2)of epilepsy, brain imaging were not different in TSC2 and TSC1 patients(P=0.480 7, 0.462 2). Compared with clinical manifestations, incidence of mental retardation(grade 1 or grade 2)was higher in TSC2 patients(85%, 11/13 cases)than TSC1 patients(50%, 2/4 cases). Also, the incidence of moderate and severe mental retardation(grade 2)was higher in TSC2 patients(54%, 7/13 cases) in comparison with TSC1 patients(25%, 1/4 cases). Compared with the phenotype of TSC2 and TSC1 patients, the frequencies of skin, renal and cardiac lesions were significantly higher in TSC2 patients than TSC1 patients. Conclusions TSC2 mutation may be the prominent molecular pathogenesis in Han population with TSC.TSC2 patients have much profound multisystemitc leisions than TSC1 patients, including mental retardation, epilepsy, facial angiofibromas and renal angiomyolipomas etc, which should be confirmed further in domestic multicenter and large samples. Key words: Tuberous sclerosis complex; Phenotype; Genes; Mutation

A fibrous papule with abundant CD34-immunoreactive ganglion-like multinucleated giant cells: a case report and review of the literature

Fibrous papules present clinically as benign, asymptomatic, dome-shaped, flesh colored papules on the face. Histologically, fibrous papules are characterized by fibrous stroma with fibroblasts and dilated blood vessels. Multiple variants of fibrous papules have been reported. Although scattered multinucleated cells in fibrous papules have been well described, we report a fibrous papule with abundant multinucleated ganglion-like giant cells that were immunoreactive with CD34. Recognition of such fibrous papule variants is important to avoid misdiagnosis as potentially more worrisome and/or aggressive melanocytic, soft tissue, or neural lesions that may require more aggressive treatment. Indeed, fibrous papules do not commonly appear on the differential diagnosis for lesions with multinucleated giant cells or ganglion-like cells and consideration should be given to their inclusion in the appropriate clinical setting.

Discussion on endoscopic staging system for juvenile nasopharyngeal angiofibroma

Objective To develop a new staging system for juvenile nasopharyngeal angiofibroma that reflects changes in surgical approaches (endonasal),route of intracranial extension,and the extent of vascular supply from the internal carotid artery.Method Retrospective review was used to study the series cases.35 patients had undergone endoscopic endonasal surgery for JNA,from 2005 to 2011.Patients were staged according to current systems and compared with a new staging system that also incorporated the route of skull base extension and tumor vascularity.Estimated blood loss,number of operations,and tumor recurrence as main outcome measures were observed.Results Skull base erosion was observed in 74％ of cases.Following embolization of external carotid artery tributaries,residual vascularity from the internal carotid artery was seen in 51％ of patients.Residual vascularity,classified as our stage Ⅳ and Ⅴ,was strongly correlated with blood loss,requirement for multiple procedures,and residual or recurrent tumor.Conclusion Tumor size and extent of sinus disease were less important in predicting complete tumor removal with endonasal surgical techniques.This staging system for JNA accounted for 2 important prognostic factors,route of cranial base extension,and vascularity,which were applicable to endoscopic or open approaches.Compared with other staging systems,this staging system provides a better prediction of immediate morbidity (including blood loss and need for multiple operations) and tumor recurrence. Key words: Angiofibroma; Nasopharyngeal; Endoscope; Staging system

Nd:YAG laser for “fractional” treatment of angiofibromas

Tuberous sclerosis is an autosomal dominant disorder with hamartomas in multiple organ systems. Facial angiofibromas (AF) are a common cutaneous manifestation of tuberous sclerosis. They may lead to significant cosmetic and psychological problems. Many treatment modalities have been used with variable satisfaction. Fractional photothermolysis (FP) is a novel concept of laser therapy, which induces non-contiguous microscopic thermal injury. This study was designed to evaluate the efficacy and side effects of Nd:YAG laser treatment for facial AF by using spot-like irradiation technique similar to FP. Twelve patients (skin types III-IV, aged 17-45 years) with facial AF received monthly treatment with Nd:YAG laser in a pinpoint coagulation fashion. Clinical improvements were evaluated in five categories. Side effects were monitored at each follow-up visit. Excellent improvement was seen in 10 patients and good improvement in two at one month after the final treatment session. After 12 months of follow-up, no patient had significant recurrence of AF. Five patients were followed up for three years with few pinpoint-sized regrowth occurring; none of these patients received additional treatments. Side effects included transient erythema and edema in each patient but no bleeding, infection, dyspigmentation, or scarring. The present study indicates that Nd:YAG laser is an effective and safe management for the fractional treatment of facial AF.

Unusual presentation of adult xanthogranuloma

Xanthogranulomas are the most common form of non-Langerhans cell histiocytosis. Both adult and childhood forms have been described. Adult cutaneous forms can present as solitary or multiple yellowish, orange-red or tan-hued papules. Herein, we present the case of a 28-year-old Chinese man with a skin-coloured nodule on his left nasal ala that persisted for several months. While initial impression was that of a fibrous papule of the nose, the results of an excision biopsy showed histological features corresponding to xanthogranuloma. This case demonstrates the condition's myriad of dermatological presentations, and adds to the differential diagnoses of a cutaneous lesion found in the head and neck region.

Fibrous Papule of the Face, Similar to Tuberous Sclerosis Complex-Associated Angiofibroma, Shows Activation of the Mammalian Target of Rapamycin Pathway: Evidence for a Novel Therapeutic Strategy?

Fibrous papules of the face are hamartomas characterized by stellate-shaped stromal cells, multinucleated giant cells, and proliferative blood vessels in the dermis. The pathogenesis of fibrous papules remains unclear. There is a striking microscopic resemblance between fibrous papules and tuberous sclerosis complex (TSC)-associated angiofibromas. A germline mutation of the TSC1 or TSC2 gene, leading to activation of the mammalian target of rapamycin (mTOR) pathway, accounts for the pathogenesis of TSC-associated angiofibromas. Activated mTOR subsequently activates p70 ribosomal protein S6 kinase (p70S6K) and ribosomal protein S6 (S6) by phosphorylation. Rapamycin, a mTOR inhibitor, is effective in treating TSC-associated angiofibromas. The aim of this study was to understand whether the mTOR pathway is activated in fibrous papules. We studied immunoexpressions of phosphorylated (p-) mTOR effectors in fibrous papules, TSC-associated angiofibromas, and normal skin controls. P-mTOR, p-p70S6K and p-S6 were highly expressed in dermal stromal cells and epidermal keratinocytes in fibrous papules and TSC-associated angiofibromas but not in fibroblasts and epidermal keratinocytes of normal skin controls (p<0.001). The results suggest topical rapamycin may be a novel treatment option for fibrous papules.

Unusual presentation of adult xanthogranuloma

Xanthogranulomas are the most common form of non-Langerhans cell histiocytosis. Both adult and childhood forms have been described. Adult cutaneous forms can present as solitary or multiple yellowish, orange-red or tan-hued papules. Herein, we present the case of a 28-year-old Chinese man with a skin-coloured nodule on his left nasal ala that persisted for several months. While initial impression was that of a fibrous papule of the nose, the results of an excision biopsy showed histological features corresponding to xanthogranuloma. This case demonstrates the condition’s myriad of dermatological presentations, and adds to the differential diagnoses of a cutaneous lesion found in the head and neck region.

Endoscopic transnasal approach for nasopharyngeal angiofibroma without arterial embolism

To explore the feasibility of endoscopic resection without arterial embolism for nasopharyngeal angiofibroma and the strategy of decreasing the bleeding during the operation. The clinical data of twenty-five cases of nasopharyngeal angiofibroma were retrospective analyzed, including 3 cases of Radowski stageIIa, 5 cases of stageIIb, 4 cases of stageIIc and with 13 cases of stage IIIa. All cases did not receive the arterial embolism, and controlled hypotension were adopted under endoscopic transnasal approach during the tumor resection. Two cases were added the labiogingival incision. During the operation, under the opening vision, cutting out the outside of the infratemporal fossa, and the pterygoid process to adequate exposure the pterygopalatine fossa and infratemporal fossa.Early recognition of anatomical landmarks and establish the safety plane, along the periphery of the tumor to proceed with micro-separation, early blocking tumor nutrient vessels, en bloc resection of the tumor and some other ways to reduce bleeding and tumor resection. Amount of bleeding during operation was 600-1500 ml, none of them had internal carotid artery injury and intracranial injury or some other complication.Follow-up 2-3 years was available in all patients, except 1 case with residual of tumor surrounding the optic nerve, the other 24 cases had no residual tumor and relapses. The preoperative occlusion and artery ligation may not be needed.Surgical technique is the key to reduce blood loss, and it is feasible to have endoscopic resection of nasopharyngeal angiofibroma with proper operating technique.

High-Definition Optical Coherence Tomography in the Diagnosis of Basal Cell Carcinoma Evaluated by an Experienced Versus Inexperienced Investigator

Background: Histopathology is the gold standard in the diagnosis of basal cell carcinoma (BCC) but biopsies are invasive and often not the preferred diagnostic method for patients. In this context, non-invasive diagnostic imaging tools such as high definition optical coherence tomography (HD-OCT) have shown promising results in diagnosing BCC in real time, atraumatically and repeatedly. Objective: To evaluate the sensitivity and specificity of HD-OCT in the diagnosis of BCC by an experienced versus an inexperienced investigator and describe typical features in common differential diagnosis of BCC. Patients and methods: Forty three patients with clinical suspicion for BCC were included. The HD-OCT images were evaluated in a blinded manner by an experienced and inexperienced investigator. The results were compared to the histopathological diagnosis. Results: Histopathology revealed 22 BCC, 10 fibrous papules of the face, 5 actinic keratoses, 3 intradermal nevi, 2 squamous cell carcinomas and 1 sebaceous hyperplasia. The sensitivity and specificity in diagnosing BCCs correctly by HD-OCT in the experienced investigator was 86.4% and 90.5%, respectively. In the inexperienced investigator the sensitivity and the specificity was 77.3% and 81.0%, respectively. There was a good inter-observer agreement found between experienced and inexperienced investigators. Conclusion: HD-OCT can be used as auxiliary diagnostic tool in the evaluation and treatment of BCC even by inexperienced investigators.

毛包成分に富む Fibrous Papule of the Nose の１例

毛包成分に富む Fibrous Papule of the Nose の１例

Everything you wanted to know about dermatofibroma but were afraid to ask

Everything you wanted to know about dermatofibroma but were afraid to ask

Papules fibreuses du visage : une étude anatomo-clinique rétrospective de 283 cas

Fibrous papules of the face are frequent benign lesions seen in the nasal and perinasal region. Their clinical aspect is indistinct and the histological signs are sometimes mild or possibly misleading in the case of atypical forms. We carried out a retrospective study of 283 fibrous papules diagnosed at our histology laboratory. The goal of this study was to characterize this type of frequent but occasionally unrecognized lesion.We performed a retrospective study of fibrous papules of the face diagnosed in the dermatopathology laboratory of our dermatology centre between January 2002 and December 2011. The study concerned the clinical information noted in the examination request and the morphological abnormalities seen at optical microscopy. An immunohistological study of factor XIIIa was performed in selected cases.The fibrous papules of the face came from 129 men and 154 women aged between 18 and 90 years (mean: 46 years). Two hundred and thirty-seven (83.7%) lesions were taken from the nasal region and none were taken from anywhere other than the face. The clinically mentioned diagnoses varied. A diagnosis of fibrous papule of the face was stated in 42% of cases, and the main differential diagnoses were nevus (stated in 34% of cases) and basal cell carcinoma (stated in 14% of cases). The fibrous papules were classic in 85.5% of cases. We observed 6 variants of fibrous papule: hypercellular, inflammatory, pleomorphic, pigmented, clear-cell and granular-cell types. Immunohistochemistry of factor XIIIa was positive in all cases except clear-cell fibrous papules.This study shows that despite their frequency, these lesions often go unrecognized, since the hypothesis of a fibrous papule of the face was mentioned in fewer than 50% of cases at the time of biopsy. Diagnosis is often made by the histopathologist, who may be misled by some rare types. The principal differential diagnoses are nevus and basal cell carcinoma, thus warranting methodical histological analysis of all pieces.

Clinical effect of Le Fort I osteotomy approach associated with endoscope for the resection of juvenile nasopharyngeal angiofibroma

To analyze the clinical effect of Le Fort I osteotomy approach associated with endoscope for the resection of juvenile nasopharyngeal angiofibroma. Three patients with juvenile nasopharyngeal angiofibroma, stage II b, were retrospectively analyzed. All of them underwent Le Fort I osteotomy approach associated with endoscope between 2004 and 2009. All patients were followed up at first, third, sixth months and one year after surgery. Two years later, endoscopic examination and CT scan were performed, to analyze the clinical effect. All three patients had total removal of tumor and no postoperative complications. No tumor recurrence was found 2 years after operation, and no face deformity. The tooth articulation was recovered, these patients could eat hard diet, although one patient had lose a little teeth sensation. Le Fort I osteotomy had good clinical effect, if associated with endoscope, it could get a good surgical exposure, and can do well in the treatment on juvenile nasopharyngeal angiofibroma, even intruded into pterygopalatine and infratemporal fossa.

Clinical features and genetic analysis of tuberous sclerosis pedigrees

Objective In order to understand tuberous sclerosis complex better, the clinical manifestation, imaging characteristics, and genetic characteristics of tuberous sclerosis complex from 3 pedigrees were investigated. Methods The clinical data of patients from 3 tuberous sclerosis families were collected. The gene mutation type of TSC2 of proband in pedigree one was determined by PCR and direct gene sequencing. Results All of the 3 probands went to our clinic for the reason of epilepsy. Brain imaging examination noted intracranial nodular calcification. EEG showed comprehensive spines and slow waves, sharp waves. The pedigree 1 has family history, two male patients and 3 female patients, all had facial angiofibromas and epilepsy. Gene mutation analysis of TSC2 demonstrated the c.1444 ⁃ 2A > C mutation in index patient. All the 3 index patients had mental retardation, autism and hypopigmented macule. Conclusion For infants and young children with epilepsy as the first symptom, accompanied by mental retardation, autism, facial angiofibromas or hypopigmented macule and other skin abnormalities, brain imaging examination noted intracranial nodular calcification are highly suggestive of tuberous sclerosis complex. TSC1 and TSC2 gene analysis contribute to the diagnosis of this disease, genentic counseling and prenatal diagnosis. DOI：10.3969/j.issn.1672⁃6731.2012.03.013

Chronic lingual papulosis: new, independent entity or “mature” form of transient lingual papillitis?

Several acute, usually pediatric variants of edematous, symptomatic fungiform lingual papillitis have been reported since the 1990s, most notably transient lingual papillitis (TLP); but no chronic forms have been mentioned. Is there a chronic counterpart, akin to the older palatal examples of inflammatory papillary hyperplasia? The objective of this study was to clinicopathologically characterize a previously unreported entity with clustered, chronic fibrous papules (nonsyndromic) of the tongue. Cases were collected from clinics in 2 dental schools. Five women and 4 men were identified with multiple, moderately firm, slightly pedunculated, normally colored masses clustered at the tip of the tongue (n = 4), covering the dorsal surface (n = 4) or on the lateral border (n = 1); 2 showed several erythematous or edematous papules (similar to TLP) admixed with fibrous papules. Patient ages ranged from 31 to 62 years (average 49) and all lesions had been present for many years. All lesions were asymptomatic except for the lateral border lesion, which presented with a burning sensation and mild tenderness (disappeared with antifungal medication). Five cases were associated with mouth breathing or a tongue-thrust habit; 4 were associated with geographic tongue or fissured tongue. Four papules were biopsied. All were composed of dense, avascular fibrous tissue with no or very few inflammatory cells; one showed focal mild neovascularity and edema. The lesion appeared to represent altered filiform papillae, more so than fungiform papillae. Chronic lingual papulosis (CLP) is an innocuous entity represented by focal or diffuse enlargement of numerous lingual papillae, primarily the filiform papillae. It appears to usually have an adult onset and most likely represents papillary reaction to very low-grade, chronic irritation or desiccation. Some cases with childhood onset, however, seem to be variations of normal anatomy. No treatment or biopsy is required, but a number of systemic disorders and syndromes must be ruled out before applying the CLP diagnosis.

Gamma knife for tumors involving orbit

Objective To investigate the outcomes of gamma knife treatment of patients with tumors involving orbit. Methods From 1995 to 2008, 35 patients with tumors involving orbit were treated by Leksell Gamma Knife in our center. 25 patients ( 16 meningiomas, 3 meningeal hemangiopericytomas, 2 schwannomas, 2 adenoid cystic carcinomas of the lacrimal gland, 1 metastatic tumor and 1 angiofibroma)were followed - up. MRI ( 1.5T PHILIPS or 3. 0T GE ) with 2 - mm thick slice was performed to acquire images for targeting tumors and Kula or GammaPlan was used. The mean tumor volume was 2.91 cm3 (0.17～ 19.50 cm3 ). The median marginal dose was 12. 4 Gy (8 ～ 15 Gy) and the median center dose was 26. 7 Gy ( 16 ～ 32 Gy) . Result After a mean follow - up of 30. 4 months ( 1 - 62 months) for 25 patients,tumor control was confirmed in 23(92％ ) patients. 6(24％ ) patients got symptoms relieved and 13(52％)stable. Transient symptoms development was observed in 5 ( 20％ ) patients. Of the 2 patients with tumor progression, 1 patient had to undergo another operation due to developed exophthalmos. Conclusions Gamma knife may be an effective treatment option for small or residual tumors involving orbit. Key words: Stereotactic radiosurgery; Gamma knife; Orbit; Tumors

A Case of Fibrous Papule of Face

A Case of Fibrous Papule of Face

Cellular Angiofibromas: The Meaning of Sarcomatous Transformation

Cellular angiofibromas (CAF) are benign mesenchymal tumors made up of bland spindle cells and prominent small-to-medium vessels with mural