Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital melanocytic nevi on the skin and melanocytic tumors in the leptomeninges of the central nervous system. These lesions may occur in the amygdala, cerebellum, cerebrum, pons, and spinal cord of patients. Although typically asymptomatic, malignancy occurs in the form of leptomeningeal melanoma in over half of patients. Regardless of the presence of malignancy, patients with symptomatic neurocutaneous melanosis generally have a poor prognosis with few treatment options. The pathogenesis of neurocutaneous melanosis is believed to be related to the abnormal postzygotic development of melanoblasts and mutations of the NRAS gene. Neurocutaneous melanosis was first described in 1861 by Rokitansky. It was first named by Van Bongaert in 1948. Premortem detection is difficult without the use of MRI. This, combined with the asymptomatic nature of most cases, led to the early belief that all cases were fatal. ...

Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems.

Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems.

Neurocutaneous syndromes are genetic disorders that lead to tumor growth in various parts of the body. Learn how to maximize the quality of life for children with these diseases.

Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex and Sturge-Weber syndrome, for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders - tuberous sclerosis complex, neurofibromatosis type 1, and Sturge-Weber syndrome.

Neurocutaneous melanosis or neurocutaneous melanocytosis is a rare sporadic congenital disorder characterized by the presence of giant and/or multiple satellite congenital melanocytic nevi in the skin and benign melanocytic pigmentation of the leptomeninges. These two defining features were recognized more than a century ago. A third characteristic feature is proliferative nodules arising from giant nevi. The etiology is unknown, but neurocutaneous melanosis is considered a developmental disorder of melanocyte precursors from neural crest. The distinctive unique distribution of the congenital giant nevi that gives a garment appearance is also an expression of the neural crest. The neurological manifestations often appear in infancy.The special association of neurocutaneous melanosis with Dandy-Walker malformation complex may be explained by a common pathogenesis. Mortality in infancy and childhood is high. Copyright © 2013 Elsevier B.V. All rights reserved ...

These diseases are all present at birth (congenital). They are caused by gene changes. Tuberous sclerosis (TS) is an autosomal dominant disorder. Autosomal means that both boys and girls are affected. Dominant means that only 1 copy of the gene is needed to have the condition. A parent with TD or the gene for TD has a 50% chance to pass the gene on to each child. Many children born with TS are the first cases in a family. This is because most cases of TS are caused by a new gene change (mutation), and are not inherited. But the parents of a child with TS may have very mild symptoms of the disorder. The parents are believed to have a slightly increased risk of having another child with TS. Neurofibromatosis Type 1 (NF1) occurs in about 1 in 3,000 to 4,000 babies in the U.S. NF1 is an autosomal dominant disorder. Its caused by changes in a gene on chromosome 17. In 50% of cases, this is inherited from a parent with the disease. Neurofibromatosis Type 2 (NF2) is less common. It affects about 1 in ...

Erythrokeratodermia variabilis (EKV) is an autosomal dominant disease that causes skin lesions and thickening. In 2005, a novel mutation was identified in a small group of families with an atypical form of EKV. In addition to erythematous lesions and hyper-keratosis, affected individuals from these families have severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss and severe diarrhea. In a new study, a team of Canadian researchers report that the atypical form of EKV caused by this mutation is in fact a novel neurocu-taneous syndrome, which they have named MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia). The mutation found in MEDNIK patients creates a premature stop codon in the AP1S1 gene, which encodes a subunit of an adaptor protein complex involved in protein trafficking within cells. The researchers show that knocking down Ap1s1 expression in zebrafish resulted in a phenotype reminiscent of the human ...

This category includes those diseases that affect both the nervous system (brain, spinal cord or nerves) and the skin. Examples include Neurofibromatoses, Hippel-Lindau Disease, Sturge-Weber Syndrome, Ataxia Telangiectasia, Tuberous Sclerosis, etc.

Tuberous sclerosis, NF, and Sturge-Weber disease are all conditions that are congenital (present at birth).. Although the true prevalence of tuberous sclerosis is not known, it is estimated that this disease occurs in one in 6,000 persons in the U.S. It is an autosomal dominant condition. Autosomal means that both males and females are equally affected, and dominant means that only one copy of the gene is necessary to have the disorder. Many children born with TS are the first cases in a family, since the majority of TS is caused by a new gene change (mutation), and is not inherited. However, parents of a child with TS may have very subtle symptoms of the disorder, and should be carefully examined. Even if no symptoms are present, the parents are considered at a slightly increased risk to have another child with TS, greater than that of the general population.. According to the National Institute of Neurological Disorders and Stroke (NINDS), fibromatosis Type 1 (NF1) occurs in about one in 3,000 ...

Neurocutaneous melanosis (NCM) is a rare congenital disorder characterized by the association of large and/or multiple congenital melanocytic nevi (CMN) of the skin with melanocytic lesions of the leptomeninges, including melanocytosis. Leptomeningeal melanocytosis carries a poor prognosis once neurological symptoms develop. Despite surgery, which is often not radical, few other treatment options exist. Recently, it was demonstrated that early embryonic, post-zygotic somatic mutations in the NRAS gene are implicated in the pathogenesis of NCM. In this report, we present a 13-year-old boy with NCM and progressive symptomatic leptomeningeal melanocytosis. A somatic NRASQ61K mutation was present in both CMN as well as the melanocytosis. Despite repeated surgery, the patient showed clinical progression. Therefore, treatment with MEK162, a MEK inhibitor, was started on compassionate use base. The patient died only five days later, i.e. too early to expect a clinical effect of MEK162 therapy. We therefore

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement. ...

The phakomatosis syndromes are a group of neural crest disorders that bear many features in common. They include Sturge-Weber Syndrome, Naevus of Ota, Phakomatosis Pigmentovascularis and Klippel-Trenaunay Syndrome. They have numerous ocular manifestations in common, some of which are described in this case. Glaucoma is one of these manifestations and has peculiar characteristics when seen in association with phakomatosis syndromes ...

Gomez-Lopez-Hernandez syndrome (GLHS) is a rare syndrome comprising the triad rhombencephalosynapsis (RS), parietal alopecia, and trigeminal anesthesia. Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported. Only 15 cases of GLHS have been described so far, all sporadic. We report four further patients with GLHS: one neonate, two children and a middle aged man. In all cases the diagnosis was made only in retrospect; one child died as neonate due to esophageal atresia. All patients presented RS and parietal alopecia, three intermittent head stereotypies, two had obvious trigeminal anesthesia, and one normal cognition. Alopecia and also trigeminal anesthesia can be very mild and can be easily missed. However, the dysmorphic signs including bilateral alopecia are already present in the neonatal period and are highly suggestive of GLHS. RS should be looked ...

List of disease causes of Megalencephaly due to neurocutaneous disorders, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Megalencephaly due to neurocutaneous disorders.

PHACE (OMIM no. 606519) is a neurocutaneous syndrome that refers to the association of large, plaque-like, segmental hemangiomas of the face, with one or more of the following anomalies: posterior fossa brain malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, eye anomalie …

Sturge-Weber Syndrome (SWS) is a rare neurocutaneous syndrome that is manifested by overt neurological and covert psychiatric features. Although the syndrome is known to be neurocutaneous, multiple organs and systems are involved.A 45-year-old male, with type I SWS was admitted to the psychiatric ward with manic-like symptoms. ... read more ...

neurology, american academy of neurology, aan, disorders of the brain, disorders of the central nervous system, neurologists, neurological conditions, neurosurgery, psychiatry, brain research, alternating hemiplegia, alzheimers, amyotrophic lateral sclerosis, ataxia, autonomic nervous system, brain diseases, cerebral palsy, chromosomal, chronic fatigue syndrome, chronic pain syndromes, congenital anomalies, cranial nerve diseases, dementia, demyelinating diseases, dysautonomia, epilepsy, facial differences, headaches, huntingtons disease, hydrocephalus, hyperventilation, infections, meningitis, movement disorders, muscle diseases, neoplasms, neurocutaneous syndromes, neurodegenerative diseases, neurologic manifestations, neurotoxicity syndromes, ocular motility disorders, parkinsons disease, pediatric, peripheral nervous system, pituitary disorders, porencephaly, rett syndrome, sleep disorders, spinal cord, stroke, tourette syndrome

The results of a collaborative Italian study on Neurofibromatosis type 1 (NF1) among the Pediatric Institute of Siena and 63 Italian Pediatric Institutions are reported. Data regarding 375 NF1 cases have been obtained from the Italian Registry of Neurocutaneous Syndromes established in 1987. The study allowed us to obtain data about the frequency of the main findings of the disease. Some of these findings, such as macrocephaly and multiple areas of increased signal intensity on T2-weighted images at brain MRI (Unidentified Bright Objects or UBOs) are not included in the diagnostic criteria; however they appear to be important from the diagnostic point of view because of their high incidence. UBOs have been observed in 56% of cases in which MRI was performed and, since they did not show an invasive nature, it is important that these images are well known in order to avoid a misdiagnosis of cerebral tumors. DNA linkage analysis, using probes linked to NF1 locus in 9 families with 2 or 3 ...

INDIANAPOLIS -- Patients with neurofibromatosis, the incurable neurocutaneous syndrome depicted in the movie |em|Mask|/em|, may respond to treatment with imatinib (Gleevec), preliminary clinical evide

Learn about the causes, symptoms, diagnosis & treatment of Neurocutaneous Syndromes from the Professional Version of the Merck Manuals.

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by seizures, mental retardation, and benign tumors of many organs, including the brain, kidneys, skin, retina, and heart....

If ever there was a modern day plague, the disease variously known as Morgellons, Hypertoxicity Syndrome, Delusions of Parasitosis, Bioterrain Degradation Disease, Neurocutaneous Syndrome, Myiasis, and Myiasin, would overwhelmingly qualify.

Looking for Bourneville, Desire-Magloire? Find out information about Bourneville, Desire-Magloire. A familial neurocutaneous syndrome characterized in its complete form by epilepsy, adenoma sebaceum, and mental deficiency, and pathologically by nodular... Explanation of Bourneville, Desire-Magloire

Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary abnormalities and/or cutaneous tumours] and the central and peripheral nervous systems [with congenital abnormalities and/or tumours]. Other-than-skin and nervous system involvement is frequently encountered mostly affecting eye, bone, heart/vessels, lung, kidney and gut. The spectrum of n...

Large pigmented nevi, usually on the trunk, buttocks, or perineum. CNS function may be normal at birth, but MRI examination is necessary to exclude brain or spinal cord involvement. If the CNS is involved, thickening and pigmentation of the meninges with focal accumulation of melanotic cells or brainstem lesions is observed. Progressive pigmentation and thickening of the meninges lead to cerebral deterioration, increased intracranial pressure, mental retardation, seizures, hydrocephalus, cranial nerve palsies, and spinal cord compression. ...

My son is diagnosed with GLH, however, he does not have a lot of the symptoms of the other children. The main reason for the diagnosis was Rhombencephalosynapsis, bare patches on the side of his head and some facial features. However, i just read this abstract that links VACTERL-H with Rhomb. as well as hydrocephalus. You can see the abstract here: http://www.ncbi.nlm.nih.gov/pubmed/19057916 When you look up the abnormalities of vacterl-h, is a missing radius, also, hydrocephalus ...

PHACE syndrome symptoms, causes, diagnosis, and treatment information for PHACE syndrome (PHACE association) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis.

Hereditary Neurocutaneous Angiomatoses: Overview. In: Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ. Bissonnette B, Luginbuehl I, Marciniak B, Dalens B.J. Eds. Bruno Bissonnette, et al.eds. Syndromes: Rapid Recognition and Perioperative Implications New York, NY: McGraw-Hill; 2006. http://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517679. Accessed December 16, 2017 ...

PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE

Ablative laser acne treatment - Ablative and Non Ablative Laser Treatment | Acne Treatment | London. Ideal for treating acne spots directly.

At Childrens Wisconsin, our birthmark specialists diagnose and treat PHACE syndrome. Learn about causes and view educational videos related to PHACE syndrome.

PHACES association is a spectrum of anomalies that might occur in infants with large facial hemangiomas. Most infants with PHACES association have segmental hemangiomas of the head or neck. Cardiac an

CO2 ablative laser resurfacing has been the Gold Standard for non surgical ablative facial rejuvenation since 1995. However CO2 laser resurfacing has several limitations including a prolonged and difficult recovery period, often lasting three weeks, prolonged facial redness that can … Continue reading → ...

Ablative laser resurfacing is an outpatient procedure. Your doctor will numb your skin with local anesthetics. For extensive resurfacing, such as treatment to your whole face, you might be sedated.. During ablative laser resurfacing, an intense beam of light energy (laser) is directed at your skin. The laser beam destroys the outer layer of skin (epidermis). At the same time, the laser heats the underlying skin (dermis), which causes collagen fibers to shrink. As the wound heals, new skin forms thats smoother and tighter. Ablative laser resurfacing typically takes between 30 minutes and two hours, depending on the technique used and the size of the area treated.. Nonablative laser resurfacing can be done in your doctors office. Your doctor will protect your eyes and numb your skin with a topical anesthetic one hour before treatment. If youre having fractional photothermolysis, you might need additional pain relief. To protect the outer layer of your skin, your doctor will apply a water-based ...

Chad L, Dubinski W, Hawkins C, Pope E, Bernstein S, Chiasson D. Postmortem vascular pathology in PHACES syndrome: a case report. Pediatr Dev Pathol. 2012 Nov-Dec; 15(6):507-10 ...

How does laser skin resurfacing work?. Its all about using beams of light. Your licensed and certified provider uses the laser to send short, concentrated pulsating beams of light at irregular skin. This removes unwanted, damaged skin in a very precise manner one layer at a time.. The laser beam used in laser resurfacing removes the outer layer of skin, called the epidermis. It simultaneously heats the underlying skin, called the dermis. This action works to stimulate growth of new collagen fibers. As the treated area heals, the new skin that forms is smoother and firmer.. Laser skin resurfacings targeted approach means there are fewer problems with hypopigmentation, or a lightening of skin for procedures such as laser acne scar reduction.. Ablative Lasers vs. Non-Ablative Lasers. In general, laser resurfacing treatments fall under one of two categories: ablative lasers and non-ablative lasers. Both ablative and non-ablative resurfacing can give you dramatic improvements, but they do differ ...

Laser skin resurfacing is categorized in different ways, and to someone not familiar with the different options, it can be confusing and overwhelming. Adding to the confusion is the fact that there are many different laser manufacturers, each of them marketing their particular device as the best for wrinkles, pigment, sun damage, etc. I want to try to simplify this by reviewing the basic categories of laser resurfacing. Remember that each category will have many different devices on the market, all with similar functions. This review should help you to narrow down your options when deciding on a laser resurfacing procedure.. The first categories to review are ablative versus non-ablative laser resurfacing.. Ablative laser resurfacing of the face for sun damage and aging was first performed with a Carbon Dioxide (CO2) laser in 1989. The target of ablative lasers is water contained in the skin; when heated by laser energy the skin tissue is vaporized and removed from the skin surface. A wound ...

An apparatus and method for determining a volume of tumor mass destroyed. The present invention includes a temperature probe and a laser probe having a temperature sensor. The laser probe and temperature probe are inserted to measure a temperature of the tumor mass and a temperature of tissue mass surrounding the tumor mass. By determining the volume of tumor mass destroyed, a graphical representation of the volume of tumor mass destroyed is provided whereby real-time visual monitoring of the destruction of the tumor mass is achieved.

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...

PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Apply for a Grant. Applications are now being accepted for 2020 PeDRA Research Grants. As many as six one-year, $15,000 awards will be given to individuals or teams conducting early stage pediatric dermatology research.. ...

A formulation and method of mitigation of symptoms of patients suffering from a neurocutaneous pain syndrome by topical application of the formulation. The formulation is obtained by steeping the bark

This review focuses on the role of the peripheral nervous system in cutaneous biology and disease. During the last few years, a modern concept of an interactive network between cutaneous nerves, the neuroendocrine axis, and the immune system has been established. We learned that neurocutaneous interactions influence a variety of physiological and pathophysiological functions, including cell growth, immunity, inflammation, pruritus, and wound healing. This interaction is mediated by primary afferent as well as autonomic nerves, which release neuromediators and activate specific receptors on many target cells in the skin. A dense network of sensory nerves releases neuropeptides, thereby modulating inflammation, cell growth, and the immune responses in the skin. Neurotrophic factors, in addition to regulating nerve growth, participate in many properties of skin function. The skin expresses a variety of neurohormone receptors coupled to heterotrimeric G proteins that are tightly involved in skin ...

This review focuses on the role of the peripheral nervous system in cutaneous biology and disease. During the last few years, a modern concept of an interactive network between cutaneous nerves, the neuroendocrine axis, and the immune system has been established. We learned that neurocutaneous interactions influence a variety of physiological and pathophysiological functions, including cell growth, immunity, inflammation, pruritus, and wound healing. This interaction is mediated by primary afferent as well as autonomic nerves, which release neuromediators and activate specific receptors on many target cells in the skin. A dense network of sensory nerves releases neuropeptides, thereby modulating inflammation, cell growth, and the immune responses in the skin. Neurotrophic factors, in addition to regulating nerve growth, participate in many properties of skin function. The skin expresses a variety of neurohormone receptors coupled to heterotrimeric G proteins that are tightly involved in skin ...

TY - JOUR. T1 - Tuberous sclerosis with rhabdomyoma. AU - Ajay, V.. AU - Singhal, Vikram. AU - Venkateshwarlu, Vardhelli. AU - Rajesh, S. M.. PY - 2013/1/1. Y1 - 2013/1/1. N2 - Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 11/2-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.. AB - Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 11/2-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance ...

BACKGROUND: Patients with a large congenital melanocytic nevus (LCMN) may have associated leptomeningeal melanocytosis with or without central nervous system (CNS) melanomas. These patients are considered to have neurocutaneous melanosis, a disorder

FINAL DIAGNOSIS. Schwannoma grade I WHO of the jugular foramen associated with leptomeningeal blue nevus.. DISCUSSION. Phacomatosis pigmentovascularis (PPV) is described as a rare combination of a widespread vascular nevus (nevus flammeus - port-wine stain) with an extensive pigmentary nevus (nevus pigmentosus) (5, 6, 9). Happle (9) proposed a new classification of PPV into 4 types: I) phacomatosis cesioflammea, presenting one or more aberrant Mongolian spots and one or more port-wine stains; II) phacomatosis spilorosea which is characterized by presence of ros -wine nevus; III) phacomatosis cesiomarmorata is characterized by a coexistence of aberrant Mongolian spots and cutis marmorata telangiectatica congenita; and IV) includes the unclassifiable types, like the presented case. Phacomatosis is the general term applied to describe some neurocutaneous syndromes (9). It is believed that approximately 50% of the patients affected of PPV have systemic involvement (6). Central nervous system ...

Background Children with Giant Congenital Melanocytic Nevi (GCMN) carry a great challenge to the pediatric and reconstructive surgeons to cover the widely exposed area after its excision. A variety of treatment options exists for the management of such cases. In this retrospective review of selected group of children had a GCMN of their abdominal walls were managed with implantation of tissue expanders (TE) for staged reconstruction, patients evaluated with respect to complications, general and esthetic patient and parents satisfaction.. ...

Figure 2. Photomicrograph of cutaneous sample showing proliferation of pigmented melanotic cells along the hair follicle. HE stain ×400.Figure 2 Photographie au microscope optique (×400) dun prélèvement cutané montrant la prolifération des mélanocytes le long du follicule pilleux. ...

Looking for online definition of phakomatosis in the Medical Dictionary? phakomatosis explanation free. What is phakomatosis? Meaning of phakomatosis medical term. What does phakomatosis mean?

Pediatric neurofibromatosis 1 and parental stress: a multicenter study Maria Esposito,1 Rosa Marotta,2 Michele Roccella,3 Beatrice Gallai,4 Lucia Parisi,3 Serena Marianna Lavano,2 Marco Carotenuto1 1Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, Second University of Naples, Naples, Italy; 2Department of Psychiatry, "Magna Graecia" University of Catanzaro, Catanzaro, Italy; 3Child Neuropsychiatry, Department of Psychology, University of Palermo, Palermo, Italy; 4Unit of Child and Adolescent Neuropsychiatry, University of Perugia, Perugia, Italy Background: Neurofibromatosis 1 (NF1) is a complex and multifaceted neurocutaneous syndrome with many and varied comorbidities. The literature about the prevalence and degree of maternal stress and the impact of NF1 in the parent–child interaction is still scant. The aim of this study was to evaluate the prevalence of maternal stress in a large pediatric sample of individuals affected

Rationale:. Neurofibromatosis type I (NF1) is a hereditary neurocutaneous syndrome resulted from the mutation in NF1 gene. The clinical diagnosis is comprehensively made by neurofibroma, Café-au-lait spot, osseous deformity and so on. Infrequently, aberrant neurofibromin function results in vasculopathy, which can cause fatal hemorrhage. However, it is unclear how surgical interventions should be made.. Case 1:. A 53-year-old man with NF1 was admitted for sudden chest pain. Computed tomography revealed left hemothorax and a tumorous aneurysm in the 7th intercostal artery. A thoracic drainage was performed immediately, and a thoracotomy was performed on 18 days after admission.. Case 2:. A 32-year-old man with NF1 was admitted due to chest back pain and hemodynamic instability. Computed tomography revealed left massive hemothorax and an extravasation from the 9th intercostal aneurysm. An urgent operation via left lateral thoracotomy was performed to remove hematoma and control active bleeding. ...

PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

MalaCards based summary : Nevus of Ota, also known as nevus fusculoceruleus ophthalmomaxillaris, is related to phacomatosis pigmentovascularis and melanoma. An important gene associated with Nevus of Ota is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are Development ERBB-family signaling and DNA Double Strand Break Response. Affiliated tissues include skin, eye and pineal, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and digestive/alimentary ...

Dr. Ashfaq A. Marghoob is a board-certified dermatologist specializing in the diagnosis and treatment of cancers of the skin. He is the director of the Memorial Sloan-Kettering regional skin cancer clinic located in Hauppauge, Long Island. In addition to consulting and treating patients on Long Island, he also sees patients at the Memorial Sloan-Kettering outpatient facility in Manhattan. Although, providing the best care possible for patients is his primary objective, he remains committed to education and research. Dr. Marghoobs belief is that improved efforts in educating physicians and the public regarding the importance of early skin cancer detection will translate into lives saved. His clinical research has led to the publication of numerous peer reviewed manuscripts and book chapters on topics related to skin cancer with an emphasis on melanoma, acquired melanocytic nevi, congenital melanocytic nevi and basal cell carcinoma. The focus of much of his research is on early recognition of ...

A 12-year-old Chinese girl was demonstrated multivessel distortion and malformation: aortic coarctation with the narrowest lumen diameter measuring of 4 mm located between the left common carotid artery and the left subclavian artery, a huge and thin-walled aneurysm is connected to the coarctation, and the descending aorta was distorted. Cerebrovascular revealed distorted arteries and a completely aberrant brain blood supply. She underwent correction of the aortic coarctation by establishing a bypass between the ascending aorta and the descending aorta using a 13-mm Gore-tex tube. Postoperative recovery was uneventful, at 6-month follow-up, the cervical vascular pulsatility was relieved and she is in good condition.

Background Congenital melanocytic nevi (CMN) are nevomelanocytic nevi which are present at birth. In this study, we set out to determine the clinical and dermoscopic properties of CMN. Methods A total of 239 lesions were diagnosed as CMN. Dermoscopic properties were noted. Age, sex, nevus location and nevus size of the patients were also collected from the patient records. Results A total of 239 lesions were diagnosed as CMN in 239 patients (age ranged from 1 month to 63 years (20.79 ± 1 ..................More ...

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems. We performed mutational analyses on 325 individuals with definite tuberous sclerosis complex diagnostic status. We identified mutations in 72% (199/257) of de novo and 77 …

It appears that 2019 is the Year of the Jawline. A strong jawline is interpreted as a characteristic of strength, beauty, virility, and power. In a study of S&P 500 CEOs, 95% were considered to have a well defined jawline. With advances in aesthetic technology and techniques, achieving that perfect profile is becoming easier, with less downtime, costs, and risks. Here are the top 5 procedures to improve your jawline:. 5) Neck Lift/Lower Face Lift: With incisions placed behind the ears, this surgery can be performed with just local anesthetic. Downtime is about a week or 2. For severe jowling and platysma bands, this will give the best results.. 4) Ablative Laser (Erbium/CO2) or Renuvion(J Plasma): These procedures have significant wound care for a week or more. The skin is stimulated by the heat of the laser/plasma to contract and create collagen. Healing time can take weeks and redness can persist for months. Risks include infection, scarring, hyper and hypopigmentation. Procedure is limited ...