Cutaneous Neurofibroma of the Lacrimal Caruncule: A Case Report.
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ABSTRACT:
SUBMITTER: Motta M
PROVIDER: S-EPMC5498952 | biostudies-other | 2017 May-Aug
REPOSITORIES: biostudies-other
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Project description:Background:Intraparotid facial nerve neurofibromas are benign neoplasms, extremely rare, difficult to diagnose and to manage. Only three pediatric cases have been reported in the literature. Case presentation:We report the 4th case of a 7-year-old child admitted for a parotid mass without facial palsy, for whom the surgical indication was the increase in volume of this mass, as well as the aesthetical impairment, the surgical exploration found the tumor attached to the lower branch of the division of the facial nerve. The excision of the mass was performed with the sacrifice of the inferior branch of the facial nerve, the trunk and the upper branch of the facial nerve was preserved, the pathological study was in favor of a plexiform neurofibroma.The patient has presented postoperatively a grade 5 facial palsy in the inferior territory of the facial nerve with a slight recovery 1 year after surgery. Conclusion:Even though plexiform neurofibromas in the parotid gland are extremely rare, and their diagnosis are not often primary evoked in front of any growing mass of this region, the surgeon must keep in mind the existence of these neoplasms as a differential diagnosis of a parotid tumor.
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Project description:PurposeImmunoglobulin G4-related disease is a systemic fibroinflammatory disease of unknown etiology. Immunoglobulin G4-related ophthalmic disease (IgG4-ROD) can manifest in multiple ways, but lacrimal sac involvement is rare. We present the first case in Chinese population of lacrimal sac IgG4-ROD.ObservationsLacrimal sac IgG4-ROD is rare, and only 9 cases were reported in literature. Despite reported cases in Asian population, mainly in Japan, there was none from the Chinese population or South Asia. Our index case is a 67-year-old Chinese male, who presented with a left insidious nasolacrimal duct swelling mimicking dacryocystocele. Lacrimal sac IgG4-ROD was diagnosed with radiological, serological, pathological and immunohistochemical evidence. The under-reporting of this disease entity may suggest a benign course of such.Conclusions and importanceThis is the first reported case of biopsy proven lacrimal sac definite IgG4-ROD in Chinese patient on English literature. With the limited cases reported in literature, the pathology of Immunoglobulin G4 immune process in lacrimal sac demands further investigation.
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Project description:Rectal and perianal pain is a common problem. Most people have experienced it at least once in their lifetime. It usually manifests as mild discomfort, but sometimes the pain can be so severe that it is incapacitating. A 59-year-old woman admitted with a 2-year history of paroxysmal perianal pain underwent a full work-up including proctoscopy, sigmoidoscopy, full colonoscopy, and barium enema that were unremarkable. Lumbosacral magnetic resonance imaging with and without gadolinium showed an intradural-extramedullary lesion at the level of L5. The pathologic diagnosis was a neurofibroma. She underwent surgery, and after a few weeks she felt well and medication was no longer needed for her paroxysmal pain. Although one should consider the usual causes of colorectal pain such as hemorrhoids, anal fissure, proctalgia fugax, and chronic perianal pain syndrome, we should keep in mind that some referral pain may mimic local pathologies and should be evaluated properly.
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Project description:Aspergillary rhinopharyngitis in an equine patient
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Project description:IntroductionPlexiform neurofibroma with neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare entity and occurs in approximately 5-15% patients. These are slow growing, painless and locally infiltrating tumors. The pattern of inheritance is autosomal dominant and its penetrance is almost complete by 5 years of age.Presentation of caseWe hereby report a case of 13 years old boy visited presenting with swelling of right eyelid and forehead. After surgical removal, the tissue was sent for histopathological evaluation. Microscopy revealed an unencapsulated tumor mass comprising of well organized mixture of multiple nerve bundles with interlacing neural tissue in background of spindle shaped cells along with myxoid areas and numerous blood vessels.DiscussionThe NF1 gene responsible for the disease is located on chromosome 17 at locus 17q11.2 that codes for the protein neurofibromin. The frequency of neomutations is particularly high and almost half of the cases are sporadic. NF1 is characterized by a wide variability of clinical expressions, even within a given family. Majority of patients can be diagnosed only after thorough physical examination.ConclusionThe wide variation of the clinical expression, the tumor risk and the totally unpredictable evolution of the disease impose regular monitoring of NF1 patients. This surveillance is mainly clinical and has to be adapted to the patient's age in order to assure early management of complications.
| S-EPMC7473834 | biostudies-literature
Project description:Neurofibromatosis type 1 (NF1) is a life-long neurocutaneous disorder characterized by a predisposition to tumor development, including cutaneous neurofibroma (cNF), the hallmark of the disease. cNF is a histologically benign, multicellular tumor formed in virtually most individuals with NF1. It is considered the most burdensome feature of the disorder due to their physical discomfort, cosmetically disfiguring appearance, and psychosocial burden. Management of cNF remains a challenge in the medical field. Effective medicinal treatment for cNF does not exist at this time. Trials aimed at targeting individual components of the neoplasm such as mast cells with Ketotifen have not shown much success. Physical removal or destruction has been the mainstay of therapy. Surgical removal gives excellent cosmetic results, but risk in general anesthesia may require trained specialists. Destructive laser such as CO2 laser is effective in treating hundreds of tumors at one time but has high risk of scarring hypopigmentation or hyperpigmentation that alter cosmetic outcomes. A robust, low-risk surgical technique has been developed, which may be performed in clinic using traditional biopsy tools that may be more accessible to NF1 patients worldwide than contemporary techniques including Er:YAG or Nd:YAG laser. In this review, specific recommendations for management of cNFs are made based on symptoms, clinical expertise, and available resources. Additionally, antiproliferative agents aimed at stimulating cellular quiescence are explored.
| S-EPMC7317049 | biostudies-literature
Project description:BACKGROUND:Cutaneous neurofibromas (cNF) are physically disfiguring, painful, and cause extensive psychologic harm in patients with neurofibromatosis type 1 (NF1). There is currently no effective medical treatment and surgical procedures are inaccessible to most NF1 patients globally. OBJECTIVE:While research is underway to find an effective medical treatment for cNF, there is an urgent need to develop surgical approach that is accessible to all NF1 patients in the world with the skill set and equipment found in most general medical office settings. Here, we present a robust surgical approach to remove cNF that does not require sterile surgical field, utilizes accessible clinical equipment, and can be performed by any health care providers including family practitioners, and physician assistants. METHODS:In a prospective case-series, patients with NF1 underwent this surgical procedure which removes multiple cutaneous neurofibromas. The Dermatology Life Quality Index was given to subjects before and after the procedure as surrogate for patient satisfaction. RESULTS:83 tumors were removed throughout the body from twelve individuals. Examination at follow-up visits revealed well-healed scars without infection or adverse events including aberrant scarring. Patient satisfaction with the procedure was high with significant improvements in symptoms, daily activities, leisure, personal relationships, and treatment experience (P = 0.00062). CONCLUSION:This study demonstrates a robust surgical approach to management cutaneous neurofibromas which can be accessed world-wide to individuals with NF1 and performed by a wide-variety of medical specialists with high clinical efficacy and patient satisfaction.
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Project description:Neurofibromatosis Type I (NF1) is a neurocutaneous genetic syndrome characterized by a wide spectrum of clinical presentations, including benign peripheral nerve sheath tumor called neurofibroma. These tumors originate from the Schwann cell lineage but other cell types as well as extracellular matrix (ECM) in the neurofibroma microenvironment constitute the majority of the tumor mass. In fact, collagen accounts for up to 50% of the neurofibroma's dry weight. Although the presence of collagens in neurofibroma is indisputable, the exact repertoire of ECM genes and ECM-associated genes (i.e. the matrisome) and their functions are unknown. Here, transcriptome profiling by single-cell RNA sequencing reveals the matrisome of human cutaneous neurofibroma (cNF). We discovered that classic pro-fibrogenic collagen I myofibroblasts are rare in neurofibroma. In contrast, collagen VI, a pro-tumorigenic ECM, is abundant and mainly secreted by neurofibroma fibroblasts. This study also identified potential cell type-specific markers to further elucidate the biology of the cNF microenvironment.
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Project description:Purpureocillium lilacinum, widely used as a commercial biocontrol agent for controlling plant-parasitic nematodes, is an emerging opportunistic pathogen in humans and is increasingly reported, especially among immunocompromised patients. We report a classic case of cutaneous mycosis caused by P. lilacinum. A 51-year-old Chinese woman who received tacrolimus and glucocorticoid therapy for 3 years for nephrotic syndrome experienced recurrent papules, pustules, and ulceration on her right ring finger and subcutaneous nodules on her forearm 6 months ago. A lesion biopsy on the right ring finger revealed multiple epithelioid granulomas in the dermis and fat layer containing slender, pigmented fungal hyphae. The fungal culture showed the growth of violet floccose colonies. Lactophenol cotton blue culture stain demonstrated brush-like phialides, with a swollen basal part attached to chains of conidia. Sequencing of the internal transcribed spacer regions of ribosomal DNA, alignment with GenBank, and use of a Basic Local Alignment Search Tool analysis led to the identification of P. lilacinum. Treatment with oral voriconazole was successful.
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Project description:Metabolism is a tightly regulated sequence of events, supported by key reactions between enzymes and enzyme-specific substrates. These reactions have the potential to produce metabolic side products that can have deleterious effects to further key metabolic reactions. The nicotinamide repair system consists of two partner enzymes, NAD(P)HX epimerase (NAXE) and NAD(P)HX dehydratase (NAXD). These enzymes regulate the levels of metabolic side products. Here we present a case of an 11-month old child who presented to our paediatric department with pyrexia, lethargy and multiple cutaneous lesions on the background of NAXD deficiency, a lethal neurometabolic disorder of early childhood. Despite early intervention with intravenous antibiotics, the patient failed to improve and subsequently passed away. The skin lesions were thought to be a consequence of systemic disease rather than a propagator of infection. Clinicians should be aware of this incredibly rare metabolic disease, its potential to cause widespread systemic dysfunction and the developing avenues for management.
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