Basaloid Follicular Hamartoma: An Additional Criterion of Nevoid Basal Cell Carcinoma Syndrome.

ABSTRACT: Basaloid follicular hamartoma (BFH) is a rare, benign follicular neoplasm which typically presents as brown to skin-colored papules on the face, scalp, and trunk. Histologically, BFH consists of cords and strands of basaloid cells forming cystic structures with scant stroma and should be distinguished from infundibulocystic basal cell carcinoma to avoid overly aggressive treatment. Although BFH has been found to be associated with distinct syndromes, including alopecia, myasthenia gravis, and cystic fibrosis, there is often clinical, histopathologic, and genetic overlap with nevoid basal cell carcinoma syndrome (NBCCS). In this article, we describe a case of a 13-year-old patient with NBCCS who presented with multiple BFHs and propose that it its inclusion into the diagnostic criteria for NBCCS be considered.

Resection of Oculomotor Nerve Lesions Using Continuous Stimulation of the Oculomotor Nerve Proximal to the Lesion: A Technical Report.

BACKGROUND: We describe a continuous monitoring method aimed at preserving nerve function during biopsy of lesions on the oculomotor nerve using stimulation of the oculomotor nerve proximal to the lesion. CASE DESCRIPTION: A 5-year-old girl with a recurrent left oculomotor nerve palsy and contrast-enhancing left oculomotor nerve mass on magnetic resonance imaging underwent a biopsy of the lesion to aid in its diagnosis. At the time of surgery, needle electrodes were inserted into the superior and inferior rectus muscles percutaneously, and cotton-covered electrodes were implanted into the oculomotor nerve proximal to the lesion. Compound muscle action potentials of the oculomotor nerve were measured continuously by monopolar stimulation. The lesion was mapped by direct stimulation, and the unresponsive area was excised. The amplitude of the compound muscle action potentials decreased during the resection but recovered postoperatively. After resection of the lesion, the compound muscle action potentials remained the same as they were preoperatively. No obvious postoperative oculomotor nerve palsy was observed. CONCLUSIONS: This method of continuous monitoring of the function of the oculomotor nerve is simple to use and is suitable for lesions in close proximity to the oculomotor nerve.

Respiratory Epithelial Adenomatoid Hamartoma is Frequent in Olfactory Cleft After Nasalization.

OBJECTIVES: To assess the site and histopathology of polyps at the first revision surgery for recurrent nasal polyposis (NP) after radical ethmoidectomy (nasalization). STUDY DESIGN: Retrospective study. METHODS: Between January 2008 and December 2015, a total of 62 patients having undergone revision surgery for recurrent NP after nasalization were included. The site and histology of the recurrence of polyps were analyzed according to operative and pathological reports. RESULTS: Histology showed classical inflammatory nasal polyps (CINP) in 91% of nasal cavities at primary surgery versus respiratory epithelial adenomatoid hamartoma (REAH) or REAH associated to CINP in 54.8% at revision surgery (P < .0001). Polyps were principally observed in the ethmoidal complex in 70% of nasal cavities during primary surgery and in the olfactory clefts in 88.7% during revision surgery (P < .0001). The mean interval between nasalization and first revision surgery was 8.8 ± 4.4 years (0.4-21.7 years). This interval was significantly shorter for grade 3 polyps, polyps removed from both ethmoidal complex and olfactory cleft at primary surgery, association of CINP and REAH at primary surgery, and when primary surgery had preserved the middle turbinates. CONCLUSION: Polyp recurrences after nasalization were mainly observed in the olfactory clefts and can be different histological features: inflammatory polyps, respiratory epithelial adenomatoid hamartoma, or a combination of both. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:2098-2104, 2020.

Nódulos de Lisch y neurofibromatosis tipo I / Lisch nodules in neurofibromatosis type I

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Primary ocular presentation of tuberous sclerosis - A case report.

A 25-year-old man presented with decreased vision in the left eye with hypopigmented elevated subretinal lesion over the optic disk with abnormal vasculature, subretinal and retinal hemorrhages, and fluid in the macula. An area of high spike over the disk with corresponding orbital shadowing was seen on B scan ultrasonography. Fundus fluorescein angiography revealed abnormal vasculature. Systemic examination revealed facial angiofibroma, ashleaf spot, and dental pits with multiple cortical tubers on CT brain. Intravitreal injection of bevacizumab led to visual and tomographic improvement. Abnormal retinal vascularization and exudation in young individuals may be a presenting feature in tuberous sclerosis.

Subthreshold micropulse laser photocoagulation therapy in a case of bilateral retinal astrocytic hamartomas with tuberous sclerosis complex: A case report.

RATIONALE: Report a case of bilateral multiple retinal hamartomas (RAHs) in a patient with tuberous sclerosis complex (TSC) and introduced a new method (subthreshold micropulse laser photocoagulation) for the treatment of RAHs. PATIENT CONCERNS: A 20-year-old man with TSC complained of decreased vision and metamorphosia in both eyes for 2 months. At presentation, visual acuity (VA) was 20/32 in the right eye and 20/40 in the left eye. Fundus photographs, optical coherence tomography, fundus fluorescein angiography (FFA), and indocyanine green angiography indicated multiple RAHs in both eyes. DIAGNOSES: Bilateral retinal astrocytic hamartomas. INTERVENTIONS: In the right eye, 577 nm photocoagulation was adopted to treat the RAHs with obvious fluorescein leakage in FFA. The paramacular RAHs were treated by subthreshold micropulse mode to minimize the damage to macula. Photocoagulation therapy was administrated in the left eye after 1 dose of intravitreal ranibizumab treatment. OUTCOMES: After photocoagulation therapy (including subthreshold micropulse laser photocoagulation for the paramacular RAHs in both eyes), the VA improved to 20/25 OD and 20/32 OS with no recurrence of exudation. LESSONS: About 577 nm photocoagulation for the peripheral RAHs in combination with subthreshold micropulse laser photocoagulation for RAHs in the macular zone is a good option for multiple RAHs in patients with TSC.

Retinal astrocytic hamartoma in tuberous sclerosis complex in an elderly person: a case report.

BACKGROUND: Spectral domain optical coherence tomography (SD-OCT) is proposed as a way of predicting the development and likelihood of retinal astrocytic hamartoma (RAH) in tuberous sclerosis complex (TSC) in elderly patients. CASE PRESENTATION: This report describes a case of RAH in TSC in an elderly patient. The patient was a 62-year-old woman and experienced pain in the lower left abdomen for two years. Bilateral renal angiomyolipoma, multiple hepatic angiomyolipoma and multiple pulmonary nodules were demonstrated using computed tomography (CT). Brain CT showed bilateral multiple calcification near by the cella lateralis. A clinical diagnosis of TSC was made. Visual acuity (decimal) in the right and left eye was determined to be 0.6 and 0.8, respectively. SD-OCT revealed a retinal tumour in the inner layer of the retina in the right fundus and a pre-retinal membrane which may have evolved later. CONCLUSIONS: A routine ophthalmic examination is advised for patients suspected of having TSC to prevent this condition from being overlooked. In addition, an OCT examination can be used to predict the development and likelihood of RAH.

The cutaneous manifestations of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a genetic multisystem disease with variable manifestations that can prominently involve the skin. The diagnosis of this disorder has evolved over the past two centuries. The 2012 TSC criteria emphasizes the importance of dermatological findings; orocutaneous manifestations account for 4 of 11 major criterion and 3 of 6 minor criterion. A detailed clinical dermatological evaluation is recommended for both pediatric and adult patients undergoing initial evaluation for TSC. Comprehensive dermatologic evaluation is extremely helpful when assessing these lesions and constructing a differential diagnosis.

Case of colonic mucosal Schwann cell hamartoma and review of literature on unusual colonic polyps.

Mucosal Schwann cell hamartomas (MSCH) are benign mesenchymal tumours rarely seen in the gastrointestinal tract. They occasionally present as incidental sessile polyps during colonoscopy. A 55-year-old asymptomatic female patient with a medical history of multiple sclerosis presented for a screening colonoscopy. A 5 mm low-risk tubular adenoma was noted in the caecum, and a second 5 mm polyp was found in the ascending colon. Histopathology of the ascending colon polyp showed proliferation of spindle cells without ganglion cells in the lamina propria. Immunohistochemical findings are compatible with an MSCH. Surveillance colonoscopy was scheduled in 5 years based on the presence of a single low-risk tubular adenoma.

Central nervous system manifestations of tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal-dominant genetic syndrome marked by development of hamartomatous lesions arising from dysfunction of the mammalian target of rapamycin (mTOR) pathway. Although TSC remains a heterogeneous clinical entity, the recent inclusion of genetic diagnostic criteria reflects advancement in our understanding of its underlying etiopathogenesis. Abnormal cellular growth, differentiation, and migration result in multisystem sequelae, with neurologic manifestations of TSC representing the primary cause of morbidity and mortality for the majority of individuals. Modern imaging techniques aid in the diagnosis of TSC and guide treatment strategies by revealing central nervous system findings. Cortical tubers are the namesake lesion of the disorder and occur in up to 90% of cases, often exerting significant epileptogenic potential. Subependymal nodules are found in 80% of patients as calcified tumors lining the ependyma of the lateral ventricles. In some cases, these nodules are thought to progress to subependymal giant cell astrocytomas and may present with obstructive hydrocephalus. Retinal astrocytic hamartomas are also common, present in 50% of patients. Surgery remains the treatment of choice for large or symptomatic lesions, though clinical trials have highlighted a potential role for mTOR pathway antagonism. A multidisciplinary approach is necessary for achieving optimal patient outcomes.

Crisis convulsivas y alteraciones cutáneas: presentación de un caso de esclerosis tuberosa / Seizures and skin lesions: report of a case of tuberous sclerosis

La esclerosis tuberosa es un síndrome neurocutáneo caracterizado por el desarrollo de hamartomas en distintos órganos. Presenta una herencia autosómica dominante, aunque más del 60% de los casos se deben a mutaciones de novo. La presentación clínica es muy variable, incluyendo principalmente manifestaciones cutáneas, neurológicas, renales, cardiacas y oculares. El diagnóstico se establece por criterios clínicos y estudio genético. El tratamiento consiste en control de la sintomatología neurológica y de otras manifestaciones sistémicas. Presentamos el caso de una niña de cuatro años remitida a Urgencias por crisis convulsivas de corta duración durante una semana, con hallazgo en el examen físico de lesiones cutáneas típicas de esclerosis tuberosa. Las pruebas de neuroimagen revelaron los característicos tuber cerebrales. Se realiza una breve revisión de esta enfermedad

Tuberous sclerosis is a neurocutaneous syndrome characterized by the presence of hamartomas involving many organs. It presents autosomal dominant inheritance, although more than 60% of cases are sporadic, resulting from new mutations. Clinical presentation is variable, including cutaneous, neurological, renal, cardiac and ophthalmic manifestations. The diagnosis is based on genetic study and clinical criteria. Treatment is directed to the control of its neurological symptoms and other systemic manifestations. We describe the case of a 4-year-old girl sent to the Emergency Department with short-term seizures during one week and with skin lesions typical of tuberous sclerosis. Neuroimaging showed the characteristic cerebral tubers. We review the main aspects of this disease

Unilateral rostral mandibulectomy for gingival vascular hamartoma in two calves.

A 2-month-old female Holstein calf and a 5-month-old female Japanese black calf presented with gingival vascular hamartoma located in the interdental space between the second and third mandibular incisors in the right and left mandibles, respectively. On radiographic or computed tomographic images, osteolytic changes appeared within the mandibular bones adjacent to the masses. The masses were removed along with affected mandibular bone by using unilateral rostral mandibulectomy. After surgery, both cases exhibited a normal appetite and grew normally, with no cosmetic changes or recurrences. Unilateral rostral mandibulectomy can be applied for invasive gingival vascular hamartomas associated with osteolytic changes.

Pápulas múltiples con distribución unilateral y segmentaria en mujer de 65 años / A 65-Year-Old Woman With Multiple Papules in a Unilateral Segmental Distribution

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A novel use of the NeuroBlate SideFire probe for minimally invasive disconnection of a hypothalamic hamartoma in a child with gelastic seizures.

The authors describe the case of a 22-month-old boy who presented with gelastic seizures and developmental delay. Magnetic resonance imaging and video-electroencephalography monitoring revealed a primarily intraventricular hypothalamic hamartoma and gelastic seizures occurring 20-30 times daily. The patient was treated with various regimens of antiepileptic medications for 16 months, but the seizures remained medically intractable. At 3 years of age, he underwent stereotactic laser ablation with an aim of disconnection of the lesion. The procedure was performed with the NeuroBlate SideFire probe. To the authors' knowledge, this is the first reported use of this technology for this procedure and serves as proof of concept. There were no perioperative complications, and 2 years postprocedure, the patient remains seizure free with marked behavioral and cognitive improvements.

Peripapillar retinal hamartoma associated with tuberous sclerosis. Case report. / A propósito de un caso de hamartoma retiniano adyacente a cabeza de nervio óptico en un caso de esclerosis tuberosa.

INTRODUCTION: Tuberous sclerosis is a rare multisystemic disease with an autosomal dominant inheritance pattern. There are few documented cases in the literature of retinal hamartomas (astrocytomas) with aggressive progression in the context of this disease. CASE REPORT: A report is presented on a case of a 31 year-old male with unknown history of ophthalmic or systemic conditions, who referred to a history of 6 months of blurred vision in his right eye. This was caused by a unilateral retinal hamartoma due to an undiagnosed tuberous sclerosis. DISCUSSION: Multidisciplinary management, with the cooperation of Internal Medicine and the Oncology Department, is needed in these cases, as well as genetic counselling for affected patients. Complications are directly related to increased tumour size. Treatment does not seem to have any influence on the natural history of the disease.

Folliculocystic and collagen hamartoma of tuberous sclerosis: A new case in a female patient and review of literature.

Folliculocystic and collagen hamartoma (FCCH) of tuberous sclerosis is a rare entity described in 2012 by Torrelo et al. with only 8 cases described, predominantly in males. It presents since birth or early infancy and in the majority of cases is associated with tuberous sclerosis. The hamartoma presents as an exophytic plaque and has distinctive histopathological features including hair follicles, intact or ruptured epidermal cysts, and an increased number of collagen fibers extending to the subcutaneous tissue. Herein we present an additional case of this rare entity in an 18-year-old female who met clinical criteria for tuberous sclerosis. The patient had an exophytic mass in the left temporal area for many years and wanted surgical excision due to its cosmetic appearance. Histopathology of the surgical specimen showed a hamartomatous lesion with multiple large intact epidermal cysts, hairs and increased thickened collagen. The patient has followed up for 1 year after the excision, with no recurrence. Additionally, we provide a literature review of known cases of FCCH as well as its clinical and histopathological differential diagnosis.

[Lisch nodule in neurofibromatosis type 1]. / Nodules de lisch dans la neurofibromatose type 1.

Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients. We report the case of a 45-year old female patient followed for a neurofibromatosis type 1 retained on the presence of multiple cutaneous café-au-lait spots and neurofibromas. Ophthalmologic examination showed visual acuity of 10/10 P3 in both eyes. Biomicroscopic examination showed Lisch nodules of the iris in both eyes (A,B).