Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions. The interconnectedness between therapeutic options highlights the importance of precision medicine in treating each disorder\'s unique molecular pathway. This review provides an extensive synthesis of ongoing and current therapeutics in the management of such clinically unique and challenging conditions.

Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome. Despite its more common appearance relative to other phakomatoses, it has a large variety of disease manifestations that can, at times, make swift diagnosis more challenging if not readily recognized, especially when presenting in an atypical manner. Our case reveals an unusual presentation of NF-1. After initially presenting with a bug bite on the lip with progressive swelling and surrounding inflammatory changes despite treatment with oral antibiotics, a CT scan was performed and demonstrated inflammatory changes surrounding the lip with an adjacent inflammatory mass lesion. Due to hypoattenuating lesions within the retropharyngeal space and misinterpretation by the otorhinolaryngologist, aspiration was attempted but unsuccessful, and the patient\'s condition worsened. Subsequent MRI was able to confirm the presence of numerous neurofibromas. The patient gradually improved on an extended course of antibiotics and was discharged in stable condition. Familiarizing oneself with the more specific imaging characteristics of this relatively common neurocutaneous disorder can help prevent incorrect or delayed diagnosis and ensure proper management. Furthermore, identifying these features on CT scan and MRI can differentiate them from other mimicking pathologies on each modality. Recognition of a scarcely reported infected neurofibroma as an established diagnostic entity could be important to include in the differential of similar cases in the future and subsequently aid in proper diagnosis and management.

Tuberous sclerosis (TS) is a genetic multisystem disorder associated with the development of benign tumors in many organs. Diffuse lipomatosis, which represents the overgrowth of fatty tissue in one part of the body, is a very rare finding reported in patients with tuberous sclerosis. We describe the case of a patient with diffuse lipomatosis in the right scapular, posterior cervical and perivertebral regions, associated with a space-occupying lesion adjacent to the odontoid process of C2 that appeared to be a pseudotumor, and discuss possible relation between these entities.

Familial neoplastic syndromes commonly impact the central and peripheral nervous systems. The most common neoplastic syndromes clinically relevant to neurology and neurologic surgery, include neurofibromatosis type 1, neurofibromatosis type 2, and Von Hippel-Lindau disease. We define the epidemiology, genetics, clinical presentation, and manifestations, as well as screening recommendations and management paradigms for these syndromes and other familial neoplastic syndromes that affect the nervous system. To ensure the optimal care of patients with neoplastic syndromes requires a multi-disciplinary approach and a comprehensive knowledge of the genetics, pathophysiology, manifestations, and management.

BACKGROUND: Neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis complex are classified under the term phakomatoses. They are characterized by ocular vascular abnormalities such as vascular tortuosity, corkscrew retinal vessel configuration, moyamoya-like aspect, microaneurysms, hemangioblastomas, and focal sheathing of retinal arteries, possibly due to abnormal formation, migration, and differentiation of neural crest cells. These alterations can be the first sign or the hallmark of disease and can be related to vasoproliferative tumors.
OBJECTIVE: Novel imaging technologies in ophthalmology, such as near-infrared reflectances and spectral domain optical coherence tomography, have improved our knowledge in the diagnosis of these pathologies. Previously undetected macular vascular alterations have been reported in phakomatoses using optical coherence tomography angiography. This review will summarize the ophthalmic vascular abnormalities and novel imaging methods in the phakomatoses.
CONCLUSIONS: Active research is being led into the ophthalmic management of these conditions and their complications, and owing to elevated vascular endothelial growth factor production from hemangioblastoma, hamartoma, and retinal vascular proliferative tumors, increasing interest in this line of therapy has been conducted although research is still ongoing in this area.

Phakomatoses are a group of neurocutaneous disorders whose origin is derived from the embryonic ectoderm. These disorders affect the central nervous system, the eyes, and the skin. This article presents phakomatoses and cutaneous manifestations associated with moyamoya disease and syndrome. Moyamoya disease is a progressive and occlusive disorder of the cerebral vasculature often presenting with particular phakomatoses. This article aims to reveal why patients with phakomatoses qualify for detailed neuroimaging.

UNASSIGNED: Tuberous sclerosis complex (TSC) is a rare hereditary phakomatosis. The clinical features can include benign growths in the central nervous system, tumors of various visceral organs, and retinal or optic disc astrocytic hamartomas in the nerve fiber layer. Here we present the case of a child with known TSC developing Coats-like manifestations.
UNASSIGNED: A 22-month-old girl with known TSC and retinal hamartoma followed since birth presented for the development of exotropia and leukocoria in the left eye. Fundus examination of the left eye showed blurred optic disc, macular star, and yellow retinal exudation in the temporal area. In addition, the left eye showed marked retinal vascular tortuosity and telangiectasias. The patient underwent brain and orbit magnetic resonance imaging, revealing heterotopic gray matter nodulations along ependyma of both lateral ventricles, with partial calcification, and a posterior flattening of the left eye.
UNASSIGNED: This report shows a rare case of Coats-like disease in a child with tuberous sclerosis. In case of presence of Coats\' manifestations associated with atypical retinal or systemic findings, genetic diseases should be considered in the differential diagnosis.

Phakomatoses or Neurocutaneous syndromes are a heterogeneous group of disorders and have variable inheritance pattern. Currently, more than 30 entities are included in this group. These disorders primarily affect the central nervous system; however, skin, viscera, and other connective tissues can also be involved with variable clinical presentation. We will describe and illustrate the various radiological findings of the common entities through the iconography of the cases presented to our department.

Though the majority of nervous system tumors are sporadic, several clinically relevant genetic syndromes are associated with a predisposition to tumors of the central and peripheral nervous system including neurofibromatosis type 1 (NF1), type 2 (NF2), and schwannomatosis (SWN). These represent prototypical tumor suppressor syndromes where loss of a tumor suppressor gene-protein impairs the cell\'s ability to regulate cell proliferation. While clinical manifestations vary widely for each of these syndromes, tumors arising in the peripheral nerve sheath are a unifying feature. Clinical clues should prompt the clinician to recognize the underlying genetic syndrome and screen for associated tumors including, among others, plexiform neurofibromas and gliomas in NF1 and vestibular schwannomas, meningiomas, and spinal ependymomas in NF2. Improvements in mechanistic understanding of how the genetic mutations that underlie these syndromes contribute to tumor formation have led to new advances in targeted therapies. MEK inhibitors have shown promise for treating progressive plexiform neurofibromas in NF1. Bevacizumab has been shown to improve hearing and treat vestibular schwannomas in NF2. This article reviews the currently available data on management of tumors associated with these three syndromes.

Encephalotrigeminal Angiomatosis is a rare developmental phakomatoses characterized by the occurrence of nevus flammeus (port-wine stain) along the distribution of branches of trigeminal nerve, vascular angiomas in the eye, and leptomeningeal angiomas affecting 1 in 1,00,000 South Asian population. Herewith, such a rare case of such encephalotrigeminal angiomatosis in a 24-year-old male is described.