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Background: Postcontrast magnetic resonance imaging (MRI), obtained under anesthesia, is often used to evaluate brain parenchymal and vascular abnormalities in young children, including those with Sturge-Weber syndrome. However, anesthesia and contrast administration may carry risks. We explored the feasibility and potential diagnostic value of a noncontrast, nonsedate MRI acquisition in Sturge-Weber syndrome children and their siblings with a wide range of cognitive and behavioral functioning. Methods: Twenty children (10 with Sturge-Weber syndrome and 10 healthy siblings; age: 0.7-13.5 years) underwent nonsedate 3-tesla (T) brain MRI acquisition with noncontrast sequences (including susceptibility-weighted imaging) prospectively along with neuropsychology assessment. All images were evaluated for quality, and MRI abnormalities identified in the Sturge-Weber syndrome group were compared to those identified on previous clinical pre- and postcontrast MRI. Results: Nineteen participants (95%) completed the MRI with good (n = 18) or adequate (n = 1) quality, including all children with Sturge-Weber syndrome and all 5 children ≤5 years of age. The Sturge-Weber syndrome group had lower cognitive functions than the controls, and both groups had several children with behavioral issues, without an apparent effect on the success and quality of the MR images. Susceptibility-weighted imaging detected key venous vascular abnormalities and calcifications and, along with the other noncontrast sequences, provided diagnostic information comparable to previous clinical MRI performed with contrast administration under anesthesia. Conclusion: This study demonstrates the feasibility and the potential diagnostic value of a nonsedate, noncontrast MRI acquisition protocol in young children including those with cognitive impairment and/or behavioral concerns. This approach can facilitate clinical trials in children where safe serial MRI is warranted. [ABSTRACT FROM AUTHOR]

People with Neurofibromatosis Type 1 (NF1) suffer disfigurement and pain when hundreds to thousands of cutaneous neurofibromas (cNFs) appear and grow throughout life. Surgical removal of cNFs under anesthesia is the only standard therapy, leaving surgical scars. Effective, minimally-invasive, safe, rapid, tolerable treatment(s) of small cNFs that may prevent tumor progression. Safety, tolerability, and efficacy of 4 different treatments were compared in 309, 2-4 mm cNFs across 19 adults with Fitzpatrick skin types (FST) I-IV: radiofrequency (RF) needle coagulation, 755 nm alexandrite laser with suction, 980 nm diode laser, and intratumoral injection of 10 mg/mL deoxycholate. Regional pain, clinical responses, tumor height and volume (by 3D photography) were assessed before, 3 and 6 months post-treatment. Biopsies were obtained electively at 3 months. There was no scarring or adverse events > grade 2. Each modality significantly (P <.05) reduced or cleared cNFs, with large variation between tumors and participants. Alexandrite laser and deoxycholate were fast and least painful; 980 nm laser was most painful. Growth of cNFs was not stimulated by treatment(s) based on height and volume values at 3 and 6 months compared to baseline. Intervention was a single treatment session; dosimetry has not been optimized. Small cNFs can be rapidly and safely treated without surgery. [ABSTRACT FROM AUTHOR]

Cobb syndrome is a rare neurocutaneous disease characterized by multiple spinal vascular anomalies and vascular skin lesions affecting the corresponding dermatome. We present a case of a 12-year-old boy with history of spinal arteriovenous malformation (AVM) extending from T4-T5 status post partial embolization 3 years ago and hyperpigmented patch overlying his thoracic back region presenting with 2 days of back pain and lower extremity numbness and weakness. He had multiple Type III AVMs within the spinal and paraspinal tissues involving the T4-T7 vertebral elements, most extensively T4 and T5. The largest aneurysm located at the confluence of the main AVM nidus was a 4 mm anterior spinal artery aneurysm, which was embolized with partial embolization of the main AVM nidus, resulting in complete aneurysm occlusion. This report provides valuable insight on the natural history, recurrence risk, and treatment options of Cobb syndrome to aid in early diagnosis and improve outcomes. [ABSTRACT FROM AUTHOR]

Background: A distally based sural flap is a workhorse flap used to reconstruct the distal lower leg and foot. It developed a bad reputation due to venous congestion, leading to flap failure. Herein, we present a new modification in the form of proximal catheterization and distal ligation of the short saphenous vein to relieve flap congestion. Methods: Twenty patients underwent reconstruction with distally based sural artery flaps for defects around the ankle, distal leg, and foot from June 2019 to March 2021. Distal ligation with proximal catheterization of the short saphenous vein was performed to reduce the risk of venous congestion. Results: Early flap congestion was observed in five flaps (25%). The venous congestion was relieved by draining congested blood through the catheter. The total amount of blood removed was around 80–100 mL in the first 2 days postoperatively. The flaps healed uneventfully as two flaps with distal 2-cm necrosis healed with dressing. Conclusions: Distal ligation of the short saphenous vein may prevent venous overloading from the foot and reduce sural flap venous congestion. Proximal catheterization of the vein to relieve flap congestion is an effective flap safety tool. Level of evidence: Level V, Risk/Prognostic. [ABSTRACT FROM AUTHOR]

Abstract Background: Nevus sebaceous of Jadassohn is defined as a rare congenital malformation characterized as a non-hereditary hamartoma of the adnexal structures of the skin. Its etiology is not yet well understood, but it is believed to be related to post-zygotic mutations in the HRAS, NRAS and KRAS genes. Objective: To describe the clinical manifestation of nevus sebaceous, as well as the main management techniques addressed in the medical literature. Moreover, the present study discusses a case report of a congenital linear nevus in the left retroauricular region found in a male patient, without extracutaneous manifestations. Method: A narrative review of the literature was carried out. Discussion: Nevus sebaceous occurs as lesions with a linear or oval appearance, with a smooth or verrucous texture, generally alopecic and with very variable color. Moreover, nevus sebaceous is one of the components of the so-called linear nevus syndrome or Schimmelpenning-Feuerstein-Mims syndrome, which is associated with multisystemic complications. The treatment of the lesions is still controversial; however, most experts indicate surgical excision as the most frequently adopted treatment method, in addition to multidisciplinary follow-up when the diagnosis of Schimmelpenning-Feuerstein-Mims syndrome is established. Conclusion: The linear nevus syndrome constitutes a rare manifestation; however, its diagnosis should be considered in children born with nevus sebaceous. There is no consensus yet on the best therapy, but surgical removal has shown to be a viable option.

Chedíak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons. Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental deficits and progressive neurodegenerative symptoms. The severity of CHS correlates with the type of LYST mutation: the classic form, linked to nonsense or frameshift mutations, presents early in childhood with severe immune dysfunction, recurrent infections, and a high risk of hemophagocytic lymphohistiocytosis (HLH), a life-threatening hyperinflammatory state. Without timely treatment, including hematopoietic stem cell transplantation (HSCT), prognosis is poor, with high mortality in early life. Atypical forms, associated with missense mutations, manifest later with milder immunologic symptoms but inevitably progress to neurological impairment, including cognitive decline and motor dysfunction. Diagnosing CHS is complex due to its rarity, phenotypic variability, and overlap with other disorders. A thorough approach, incorporating clinical evaluation, peripheral blood smear for giant granules in leukocytes, and genetic testing for LYST mutations, is crucial for accurate diagnosis. Management of CHS requires a multidisciplinary approach, focusing on HSCT for immunologic and hematologic stabilization and symptomatic and supportive care for neurological symptoms. Even those patients who undergo stabilizing HSCT eventually develop neurological difficulties. This review provides an in-depth exploration of CHS, covering its epidemiology, clinical presentation, molecular genetics, diagnostic challenges, and current management strategies, while emphasizing the necessity of a comprehensive, multidisciplinary approach to improve patient outcomes. [ABSTRACT FROM AUTHOR]

Tuberous sclerosis complex (TSC) is a rare neurocutaneous disorder of mTOR pathway dysregulation resulting from pathogenic variants in the TSC1 or TSC2 genes. Expression of this disorder may involve abnormal tissue growth and dysfunction within the brain, kidneys, heart, lungs, eyes, skin, bones, and teeth. Neurological manifestations can include subependymal giant cell astrocytomas (SEGAs), high rates of infantile spasms, drug-resistant epilepsy, developmental delay, cognitive impairment, autism spectrum disorder, and other neurobehavioral manifestations. Here we review the potential clinical manifestations of TSC by system, recommended diagnostic and surveillance testing, genetic testing, currently available therapeutic options, and considerations for education and social support resources given the unique challenges of this multi-system disorder. [ABSTRACT FROM AUTHOR]

First described in the late 1800′s, Sturge-Weber syndrome is one of the more common neurocutaneous disorders. In most cases, it is caused by a somatic mosaic variant in the GNAQ gene driving aberrant overgrowth in endothelial cells which leads to capillary-venous malformations. Characteristic findings are unilateral facial port-wine stain, ipsilateral parieto-occipital leptomeningeal angioma with calcifications and atrophy, and ipsilateral glaucoma, though there is significant variability. The predilection for facial skin and brain is likely due to common embryologic progenitors. The risk of brain involvement is increased with a hemifacial, forehead, or medial facial port-wine stain. Neurologic features include epilepsy, stroke-like episodes, transient or permanent hemiparesis and visual field deficit, headaches, and cognitive and behavioral impairment. Magnetic resonance imaging reveals contrast-enhancing leptomeningeal angiomatosis, progressive atrophy, calcifications, and ipsilateral dilated choroid plexus. The treatment of glaucoma typically requires surgery and port-wine stains are treated with laser therapy. Retrospective data from small cohorts show potential benefits of presymptomatic treatment with anti-seizure medications and/or low dose aspirin. Epilepsy surgery can benefit those with a greater degree of hemiparesis and intractable seizures. Low-dose aspirin has proven effective in lowering the frequency and severity of recoverable stroke-like events. Sirolimus has been reported preliminarily to have satisfactory results regarding cognitive function in pediatric patients, but is not a mainstay of treatment to date. Quality of life is often negatively affected by port-wine stain appearance, intractable seizures, headaches, and mood disorders. Future studies are warranted assessing medication and surgery outcomes, quality of life measures, and timing of imaging and treatment initiation. [ABSTRACT FROM AUTHOR]

A detailed understanding of genetics is critical to the diagnosis, management, and prognostication of neurocutaneous disorders. Inheritance patterns can provide a key to the identification of different neurocutaneous disorders. Autosomal dominant disorders, like neurofibromatosis type 1 and tuberous sclerosis complex, affect males and females equally and are typically seen in every generation of a pedigree due to pathogenic changes to one copy of a gene on a somatic chromosome. Autosomal recessive disorders, such as ataxia-telangiectasia, affect males and females equally but typically skip generations on pedigrees as there needs to be a pathogenic variant of the gene on each of the pair of somatic chromosomes. X-linked disorders such as incontinentia pigmenti and Fabry disease primarily affect males or affect them more severely, but in the case of incontinentia pigmenti, the condition is lethal in males and only females are noted to be affected. The pathogenic variant that is disease causing is on the X sex chromosome, of which females have two and males have one. Somatic mosaic disorders like Sturge Weber syndrome are due to pathogenic variants only in a subset of cells post-fertilization and are not present in gametes, and so are not passed on to the next generation. Conditions that are a result of germline mosaicism are usually identified as autosomal dominant conditions that have not been present in the family prior to a single child being affected, with suspicion strengthening if siblings are diagnosed with the same condition. Regardless of the suspected inheritance pattern, it is essential to consider the ethical implications of genetic testing, including family planning, discovery of consanguinity, disclosure to other potentially affected family members, and diagnostic uncertainty. [ABSTRACT FROM AUTHOR]

Abstract Background A congenital melanocytic naevus (CMN) is a rare skin condition that can be associated with abnormalities of the central nervous system (CNS). These anomalies can sometimes cause severe complications, and rarely death. Adequate information about aetiology and management is therefore crucial. To identify how to monitor patients with CMN, we aimed to estimate the prevalence of neurological involvement in patients with CMN and to summarize what specific neurological signs and symptoms and MRI abnormalities are reported in the medical literature. In addition, we summarized and evaluated the recommendations regarding MRI-screening reported in the medical literature. Methods This review was registered in PROSPERO and reported according to the MOOSE checklist. A search was conducted in EMBASE (Ovid), PubMed, and the Cochrane Library. We included studies with 10 or more patients with CMN, reporting on neurological signs and symptoms or CNS MRI. Study selection, data extraction and methodological quality assessment were performed by two independent reviewers. A meta-analysis was used to assess the prevalence of neurological signs and symptoms. Results Out of 1287 studies, fourteen studies were eligible for inclusion of which eight were included in the meta-analysis. Neurological signs and symptoms prevalence was 7.04% (CI 95% 4.47–10.93%) in the meta-analysis group and 6.26% (95% CI 3.85–10%) in a subgroup of patients with a CMN > 6 cm, evaluated in seven studies. Neurodevelopmental delay and seizures were the most frequently reported signs and symptoms. CNS melanocytosis and hydrocephalus were the most frequently reported MRI abnormalities. It was not possible to estimate the increased risk of neurological involvement in patients with CMN due to low quality of evidence and clinical heterogeneity. Conclusion Standardization in CMN studies and a multi-centre prospective study are needed to evaluate neurological involvement. Based on current literature, it is not possible to make strong recommendations on routine MRI-screening. For now, every clinical centre should decide on its own policy and weigh the advantages and disadvantages of routine MRI.

Background: A congenital melanocytic naevus (CMN) is a rare skin condition that can be associated with abnormalities of the central nervous system (CNS). These anomalies can sometimes cause severe complications, and rarely death. Adequate information about aetiology and management is therefore crucial. To identify how to monitor patients with CMN, we aimed to estimate the prevalence of neurological involvement in patients with CMN and to summarize what specific neurological signs and symptoms and MRI abnormalities are reported in the medical literature. In addition, we summarized and evaluated the recommendations regarding MRI-screening reported in the medical literature.Methods: This review was registered in PROSPERO and reported according to the MOOSE checklist. A search was conducted in EMBASE (Ovid), PubMed, and the Cochrane Library. We included studies with 10 or more patients with CMN, reporting on neurological signs and symptoms or CNS MRI. Study selection, data extraction and methodological quality assessment were performed by two independent reviewers. A meta-analysis was used to assess the prevalence of neurological signs and symptoms.Results: Out of 1287 studies, fourteen studies were eligible for inclusion of which eight were included in the meta-analysis. Neurological signs and symptoms prevalence was 7.04% (CI 95% 4.47-10.93%) in the meta-analysis group and 6.26% (95% CI 3.85-10%) in a subgroup of patients with a CMN > 6 cm, evaluated in seven studies. Neurodevelopmental delay and seizures were the most frequently reported signs and symptoms. CNS melanocytosis and hydrocephalus were the most frequently reported MRI abnormalities. It was not possible to estimate the increased risk of neurological involvement in patients with CMN due to low quality of evidence and clinical heterogeneity.Conclusion: Standardization in CMN studies and a multi-centre prospective study are needed to evaluate neurological involvement. Based on current literature, it is not possible to make strong recommendations on routine MRI-screening. For now, every clinical centre should decide on its own policy and weigh the advantages and disadvantages of routine MRI. [ABSTRACT FROM AUTHOR]

Scalp dysesthesia (SD), a variant of cutaneous dysesthesia syndrome is an underrecognized cause of scalp pruritus. It usually presents with itch, pain, burning, or stinging sensation over localized or diffuse area of the scalp without any objective findings. Trichoscopy, a rapid and in-office procedure, could aid in the early clinical diagnosis of this condition and initiate management. We report a case of SD in an elderly male diagnosed with the aid of trichoscope, evaluated and treated successfully. [ABSTRACT FROM AUTHOR]

Our skin and nervous system are tightly connected. Numerous dermatomes on our skin provide sensory information to the brain. Because skin changes can occasionally be the first sign of a neurological problem, understanding skin alterations is crucial as it can indicate early about the underlying condition, which can affect the prognosis of the disease. In these cases, the dermatologists' and neurologists' skills are complementary to each other. In this article, we have categorized diseases with neuro-cutaneous manifestations under different headings, such as infections, metabolic diseases, connective tissue disorders, genodermatoses, nutritional deficiency, and the diagnostic criteria of some commonly encountered diseases. Through tabulation, it has been observed that this categorization can serve as a useful reference for managing day-to-day patients who are either diagnosed with the diseases mentioned above or suspected to have the conditions., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Lahoti et al.)

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder of non-malignant tumor growths throughout major organ systems and neurological, neuropsychiatric, renal, and pulmonary co-morbidities. Skin manifestations are readily visible, often develop early in life, and are major features that contribute to TSC diagnosis. Medical photographs of such manifestations are commonly shown as examples from White individuals creating a potential barrier to accurately identifying these features in darker skinned individuals., Objectives: The aim of this report is to raise awareness of dermatological manifestations associated with TSC, compare their appearance by race, and consider how recognition of these features could impact diagnosis and treatment of TSC., Design and Methods: We conducted a retrospective chart review at the TSC Center of Excellence (TSCOE) at the Kennedy Krieger Institute, which included all patients in the center from 2009 (inception) through the end of the calendar year 2015 and analyzed data from the TSC Alliance Natural History Database (NHD)., Results: Among TSCOE patients, 50% of Black patients were diagnosed before the age of 1 year, compared with 70% of White patients. NHD data corroborated this trend showing a significant difference with only 38% of Blacks as compared with 50% of Whites were diagnosed at age ⩽1 year. A significant difference was observed where White participants had higher odds of having received genetic testing in both data sets. While no differences in the total number of TSC features was observed in either data set, shagreen patches and cephalic fibrous plaques were more frequently recorded in the NHD for Black individuals., Conclusion: We highlight a disparity in the representation of Black participants within the NHD, TSCOE, and TSC trials, in addition to differences in utilization of molecular testing and topical mechanistic target of rapamycin (mTOR) inhibitor therapy between Black and White individuals. We show a trend toward later diagnosis age in Black individuals. These differences between races warrant further study across additional clinical sites and other minority groups., Competing Interests: The authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: AJP and GVR are employees of the TSC Alliance, a non-profit organization, which reports revenue from individual donors and corporations including BridgeBio, Chemistry Rx, DiRx, Jazz Pharmaceuticals, LivaNova, Marinus, MassMutual, Neurelis, Nobelpharma America, Noema, Ovid, TotalCare Rx, UCB, and Upsher-Smith. The views expressed in this article are those of the authors and do not necessarily reflect the opinion of the TSC Alliance. TTG served as a principal site investigator for a Novartis study (EXIST-3); funding was provided to her institution only., (© The Author(s), 2022.)

Objective: Frailty embodies a state of increased medical vulnerability that is most often secondary to age-associated decline. Recent literature has highlighted the role of frailty and its association with significantly higher rates of morbidity and mortality in patients with CNS neoplasms. There is a paucity of research regarding the effects of frailty as it relates to neurocutaneous disorders, namely, neurofibromatosis type 1 (NF1). In this study, the authors evaluated the role of frailty in patients with NF1 and compared its predictive usefulness against the Elixhauser Comorbidity Index (ECI)., Methods: Publicly available 2016-2017 data from the Nationwide Readmissions Database was used to identify patients with a diagnosis of NF1 who underwent neurosurgical resection of an intracranial tumor. Patient frailty was queried using the Johns Hopkins Adjusted Clinical Groups frailty-defining indicator. ECI scores were collected in patients for quantitative measurement of comorbidities. Propensity score matching was performed for age, sex, ECI, insurance type, and median income by zip code, which yielded 60 frail and 60 nonfrail patients. Receiver operating characteristic (ROC) curves were created for complications, including mortality, nonroutine discharge, financial costs, length of stay (LOS), and readmissions while using comorbidity indices as predictor values. The area under the curve (AUC) of each ROC served as a proxy for model performance., Results: After propensity matching of the groups, frail patients had an increased mean ± SD hospital cost ($85,441.67 ± $59,201.09) compared with nonfrail patients ($49,321.77 ± $50,705.80) (p = 0.010). Similar trends were also found in LOS between frail (23.1 ± 14.2 days) and nonfrail (10.7 ± 10.5 days) patients (p = 0.0020). For each complication of interest, ROC curves revealed that frailty scores, ECI scores, and a combination of frailty+ECI were similarly accurate predictors of variables (p > 0.05). Frailty+ECI (AUC 0.929) outperformed using only ECI for the variable of increased LOS (AUC 0.833) (p = 0.013). When considering 1-year readmission, frailty (AUC 0.642) was outperformed by both models using ECI (AUC 0.725, p = 0.039) and frailty+ECI (AUC 0.734, p = 0.038)., Conclusions: These findings suggest that frailty and ECI are useful in predicting key complications, including mortality, nonroutine discharge, readmission, LOS, and higher costs in NF1 patients undergoing intracranial tumor resection. Consideration of a patient's frailty status is pertinent to guide appropriate inpatient management as well as resource allocation and discharge planning.