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Special Issue "Neurocutaneous Disorders – Advances in Diagnosis and Treatment"

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: 20 April 2023 | Viewed by 4285

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Special Issue Editors

Prof. Dr. Sergiusz Jozwiak

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Guest Editor

Research Department, The Children’s Memorial Health Institute, 04-736 Warsaw, Poland
Interests: early childhood epilepsy; tubrous sclerosis; neurocutaneous disorders
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Robert A Schwartz

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Guest Editor

Medical Science Building H-576, 185 South Orange Avenue, Newark, NJ 07103, USA
Interests: global health; cutaneous oncology; HIV/AIDS; neurocutaneous syndromes; paraneoplastic syndromes

Dr. Angela Peron

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Guest Editor

Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Università degli Studi di Firenze, Firenze, Italy
Interests: clinical genetics; dysmorphology; neurodevelopment disorders; rare diseases; tuberous sclerosis; Rett syndrome
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurocutaneous disorders comprise a group of more than 30 fascinating entities characterized by the coexistence of cutaneous and neurological signs and symptoms. Some, such as neurofibromatosis type 1, are relatively frequent, appearing in the general population with an incidence of 1:2000–3000, but the majority of these disorders are rare. In recent years, neurofibromatosis type 1 and the tuberous sclerosis complex, the two most frequent neurocutaneous disorders, have received special attention due to new, rapidly evolving therapeutic possibilities. Despite prominent neurocutaneous findings, some neurocutaneous syndromes have specific involvement of additional organs, making the Journal of Clinical Medicine a superb choice for publication. This Special Issue should be of interest not only to dermatologists and neurologists, but also cardiologists, nephrologists, oncologists, epileptologists, neurosurgeons, pediatricians, ophthalmologists, internists, and geneticists. This Special Issue of the Journal of Clinical Medicine aims to update the field on salient aspects related to neurocutaneous disorders.

Prof. Dr. Sergiusz Jozwiak
Prof. Dr. Robert A Schwartz
Dr. Angela Peron
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

neurocutaneous disorders
tuberous sclerosis
neurofibromatoses
Sturge-Weber syndrome
skin pigmentation
neoplasms
genetics

Published Papers (6 papers)

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Research

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Open AccessArticle

Safety of Sirolimus in Patients with Tuberous Sclerosis Complex under Two Years of Age—A Bicenter Retrospective Study

Dominika Śmiałek

Sergiusz Jóźwiak

and

Katarzyna Kotulska

J. Clin. Med. 2023, 12(1), 365; https://doi.org/10.3390/jcm12010365 - 03 Jan 2023

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Abstract

Background: mTOR inhibitors are a novel pharmacotherapy recommended for subependymal giant astrocytomas, refractory epilepsy, and the treatment of the other clinical manifestations of tuberous sclerosis complex (TSC). Clinical trials on everolimus proved it to be effective and safe in children. Despite its common use in clinical practice, the research on sirolimus is limited. This study is the first to determine and assess the severity of the adverse effects (AEs) of sirolimus administered to children with TSC under two years of age. Methods: We performed a bicenter retrospective data analysis of medical records of individuals with TSC who initiated therapy with sirolimus under the age of two. Results: Twenty-one patients were included in the study. At least one AE was reported in all participants. The most prevalent AEs were anemia, thrombocytosis, and hyperlipidemia. Infections and mouth ulcerations, often reported in the studies on older patients, were infrequent and of mild or moderate grade. Conclusions: Adverse effects associated with sirolimus use in infants and young children with TSC are frequent yet not life- or health-threatening. Further multicenter prospective clinical trials should determine the long-term safety of sirolimus. Full article

(This article belongs to the Special Issue Neurocutaneous Disorders – Advances in Diagnosis and Treatment)

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Open AccessArticle

Tuberous Sclerosis Complex Patients’ Needs and Difficulties—Results of TAND Questionnaire Analysis in Polish Adult Population

Anna B. Marcinkowska

Sergiusz Jóźwiak

Agnieszka Tarasewicz

Alicja Dębska-Ślizień

and

Edyta Szurowska

J. Clin. Med. 2022, 11(21), 6536; https://doi.org/10.3390/jcm11216536 - 03 Nov 2022

Viewed by 532

Abstract

Introduction: Tuberous Sclerosis Complex (TSC) is a rare genetic disease. Around 90% of individuals with TSC present some neuropsychiatric manifestations (TSC-associated neuropsychiatric disorders, TAND). To date, none of the studies have focused on the TAND profile of the adult population. Thus, the aim of the study was to describe their potential specific needs and difficulties, including differences in cohorts with or without epilepsy and/or intellectual disability. Method: The Polish version of the TAND Checklist was used for assessment of individuals with TSC. Participants had to meet the criteria for diagnosis of TSC. One hundred adult participants (forty-eight males/ fifty-two females; mean age 32.33 ± 11.29) were enrolled in the study. Epilepsy was present in 71% of patients; intellectual disability occurred in a total of 37%. Results: Only 11% of individuals received complete TAND features examination in the past. Moreover, 91.5 of the subjects had four and more TAND symptoms. Intellectually disabled patients and those with epilepsy had more neuropsychiatric problems than epilepsy-free subjects. Conclusions: Findings reveal that TANDs are common in adults with TSC and are underdiagnosed. Most individuals present several behavioural and cognitive problems. Among psychiatric disorders, the most common are ASD, depression, and anxiety disorder. TAND screening should be widely disseminated and applied in clinical practice for early identification, prevention, and rehabilitation of their difficulties. TAND is one of the most significant issues affecting the quality of life of TSC patients and their carers. Full article

(This article belongs to the Special Issue Neurocutaneous Disorders – Advances in Diagnosis and Treatment)

Open AccessArticle

Surgical Treatment and Complications of Deep-Seated Nodular Plexiform Neurofibromas Associated with Neurofibromatosis Type 1

and

J. Clin. Med. 2022, 11(19), 5695; https://doi.org/10.3390/jcm11195695 - 26 Sep 2022

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Abstract

Background: Nodular plexiform neurofibromas in individuals with neurofibromatosis type 1 often cause significant symptoms and are treated with surgical excision despite the potential risk of complications. This study aimed to clarify the surgical outcomes of deep-seated nodular plexiform neurofibromas and identify the factors associated with postoperative complications. Methods: We retrospectively reviewed patients with neurofibromatosis type 1 who underwent surgical excision for deep-seated nodular plexiform neurofibromas in our hospital from 2015 to 2021. Enucleation while preserving the nerve fascicles was attempted first, and en bloc resection, ligating the nerve origin in cases in which the parent nerve was entrapped by the tumor, making the tumor difficult to dissect, was performed. Results: In 15 patients, 24 nodular plexiform neurofibromas received surgical excision. Sixteen tumors were enucleated, and eight were en bloc resected. The symptoms of all 10 patients with preoperative symptoms resolved after surgery. Four patients developed new neurological deficits immediately after surgery, two of whom had retained neurological symptoms at the last visit, but these symptoms were mild. Conclusions: The present study demonstrates that surgical treatment of nodular plexiform neurofibromas, even deep-seated neurofibromas, is safe with a low risk of severe complications and improvement in preoperative symptoms. Full article

(This article belongs to the Special Issue Neurocutaneous Disorders – Advances in Diagnosis and Treatment)

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Open AccessArticle

Epilepsy and Language Development in 8–36-Month-Old Toddlers with Tuberous Sclerosis Complex

Małgorzata Foryś-Basiejko

Jagoda Głowacka-Walas

and

Sergiusz Jóźwiak

J. Clin. Med. 2022, 11(15), 4564; https://doi.org/10.3390/jcm11154564 - 04 Aug 2022

Viewed by 794

Abstract

This paper aimed to assess language development in infants and toddlers with tuberous sclerosis complex (TSC) and epilepsy, which increase the risk of autism spectrum disorder. We assessed language development in 61 patients with TSC at 8–36 months using a standardized Speech Development and Communication Inventory tool. The results showed differences in outcomes due to the duration of the seizures and the number of drugs (pFDR = 0.007 **—pFDR = 0.037 *). Children with TSC with longer epilepsy duration and receiving more antiepileptic drugs have a greater risk of language development delay. Full article

(This article belongs to the Special Issue Neurocutaneous Disorders – Advances in Diagnosis and Treatment)

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Open AccessArticle

mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex Is Associated with Specific Changes in microRNA Serum Profile

Katarzyna Bąbol-Pokora

and

J. Clin. Med. 2022, 11(12), 3395; https://doi.org/10.3390/jcm11123395 - 13 Jun 2022

Cited by 1 | Viewed by 875

Abstract

The aim of this study was to determine the serum profiles of miRNAs in patients with tuberous sclerosis (TSC) upon sirolimus treatment and compare them with those previously treated with everolimus in a similarly designed experiment. Serum microRNA profiling was performed in ten TSC patients before sirolimus therapy and again after 3–6 months using qPCR panels (Exiqon). Of 752 tested miRNAs, 28 showed significant differences in expression between TSC patients before and after sirolimus treatment. Of these, 11 miRNAs were dysregulated in the same directions as in the sirolimus groupcompared with the previously described everolimus group, miR-142-3p, miR-29c-3p, miR-150-5p, miR-425-5p, miR-376a-3p, miR-376a-3p, miR-532-3p, and miR-136-5p were upregulated, while miR-15b-3p, miR-100-5p, and miR-185-5p were downregulated. The most significant changes of expression, with fold changes exceeding 1.25 for both treatments, were noted for miR-136-5p, miR-376a-3p, and miR-150-5p. The results of a pathway analysis of the possible target genes for these miRNAs indicated the involvement of the Ras and MAPK signaling pathway. Upregulation of miR-136, miR-376a-3p, and miR-150-5p was noted in TSC patients treated with mTOR inhibitors, indicating a role in the downregulation of the mTOR pathway. Further studies are needed to determine the relationship between upregulated microRNAs and treatment efficacy. Full article

(This article belongs to the Special Issue Neurocutaneous Disorders – Advances in Diagnosis and Treatment)

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Review

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Open AccessReview

Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex—Current Views on Their Pathogenesis and Management

and

J. Clin. Med. 2023, 12(3), 956; https://doi.org/10.3390/jcm12030956 - 26 Jan 2023

Viewed by 508

Abstract

Introduction, Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder caused by mutations inactivating TSC1 or TSC2 genes and characterized by the presence of tumors involving many organs, including the brain, heart, kidneys, and skin. Subependymal giant cell astrocytoma (SEGA) is a slow-growing brain tumor almost exclusively associated with TSC. State of the Art: Despite the fact that SEGAs are benign, they require well-considered decisions regarding the timing and modality of pharmacological or surgical treatment. In TSC children and adolescents, SEGA is the major cause of mortality and morbidity. Clinical Implications: Until recently, surgical resection has been the standard therapy for SEGAs but the discovery of the role of the mTOR pathway and the introduction of mTOR inhibitors to clinical practice changed the therapeutic landscape of these tumors. In the current paper, we discuss the pros and cons of mTOR inhibitors and surgical approaches in SEGA treatment. Future Directions: In 2021, the International Tuberous Sclerosis Complex Consensus Group proposed a new integrative strategy for SEGA management. In the following review, we discuss the proposed recommendations and report the results of the literature search for the latest treatment directions. Full article

(This article belongs to the Special Issue Neurocutaneous Disorders – Advances in Diagnosis and Treatment)

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