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Neurocutaneous Disorders – Advances in Diagnosis and Treatment
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Neurocutaneous Disorders – Advances in Diagnosis and Treatment

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

Deadline for manuscript submissions: closed (20 April 2023) | Viewed by 6222

Special Issue Editors

Prof. Dr. Sergiusz Jozwiak

E-Mail Website1 Website2
Guest Editor
Research Department, The Children’s Memorial Health Institute, 04-730 Warsaw, Poland
Interests: early childhood epilepsy; tuberous sclerosis; neurocutaneous disorders
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Robert A Schwartz

E-Mail Website
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

E-Mail Website
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 (3 papers)

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Research

10 pages, 958 KiB  
Article
Surgical Treatment and Complications of Deep-Seated Nodular Plexiform Neurofibromas Associated with Neurofibromatosis Type 1
by Kunihiro Ikuta, Yoshihiro Nishida, Tomohisa Sakai, Hiroshi Koike, Kan Ito, Hiroshi Urakawa and Shiro Imagama
J. Clin. Med. 2022, 11(19), 5695; https://doi.org/10.3390/jcm11195695 - 26 Sep 2022
Cited by 2 | Viewed by 2394
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 [...] Read more.
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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12 pages, 431 KiB  
Article
Epilepsy and Language Development in 8–36-Month-Old Toddlers with Tuberous Sclerosis Complex
by Małgorzata Foryś-Basiejko, Katarzyna Kotulska, Agnieszka Maryniak, Agata Siłuszyk, Monika Szkop, Julita Borkowska, Monika Sugalska, Jagoda Głowacka-Walas and Sergiusz Jóźwiak
J. Clin. Med. 2022, 11(15), 4564; https://doi.org/10.3390/jcm11154564 - 4 Aug 2022
Cited by 3 | Viewed by 1468
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 [...] Read more.
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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10 pages, 2963 KiB  
Article
mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex Is Associated with Specific Changes in microRNA Serum Profile
by Bartłomiej Pawlik, Urszula Smyczyńska, Szymon Grabia, Wojciech Fendler, Izabela Dróżdż, Katarzyna Bąbol-Pokora, Katarzyna Kotulska, Sergiusz Jóźwiak, Julita Borkowska, Wojciech Młynarski and Joanna Trelińska
J. Clin. Med. 2022, 11(12), 3395; https://doi.org/10.3390/jcm11123395 - 13 Jun 2022
Cited by 3 | Viewed by 1641
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 [...] Read more.
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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