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Pheochromocytoma
Published in Demetrius Pertsemlidis, William B. Inabnet III, Michel Gagner, Endocrine Surgery, 2017
Pheochromocytoma can be genetically linked to neurocutaneous syndromes, also known as phacomatoses, which are inherited by autosomal dominance. In VHL disease, pheochromocytoma occurs in about 20% of family members (Figure 32.9) [5, 18, 51]. Genetic linkage analysis showed that the gene responsible for VHL is located on the short arm of chromosome 3, within the region of 3p25-26 [52]. The incidence of VHL disease is approximately 1:36,000. The spectrum of VHL-associated neoplasms also includes hemangioblastoma of the central nervous system, spinal cord, and retina; renal cell carcinoma (usually multicentric and bilateral); renal and pancreatic cysts; cystic or solid lesions of the liver, spleen, epididymis, ovary, and endolymphatic sac; and pancreatic neuroendocrine tumors [5, 51–53]. Of 256 VHL patients screened by history, physical examination, and genotyping and imaging studies, 30 (12%) had pancreatic neuroendocrine tumors [49].
Cerebral palsy, cerebellar ataxia, AIDS, phacomatosis, neuromuscular disorders, and epilepsy
Published in Jacques Corcos, David Ginsberg, Gilles Karsenty, Textbook of the Neurogenic Bladder, 2015
Christopher Kobylecki, Ling K. Lee, Mark W. Kellett
Neurocutaneous syndromes encompass a number of congenital or hereditary conditions featuring involvement of nervous system, eyeball, retina, and skin. They present in childhood and slowly progress through adolescence, with many conditions demonstrating a propensity to malignant transformation. Most cases are genetically determined, although sporadic cases can occur.44,45 Minor features are often present from birth, but with age neoplasia can often develop. Bladder disorders are unusual in many of these conditions, but the reported cases are discussed below. In some phacomatoses, such as tuberous sclerosis complex, bladder disorders have not been reported. Neurogenic bladder abnormalities have most commonly been reported in neurofibromatosis types 1 and 2.
Long and short cases
Published in Vivian A. Elwell, Ramez Kirollos, Syed Al-Haddad, Neurosurgery, 2014
Vivian A. Elwell, Ramez Kirollos, Syed Al-Haddad
Neurocutaneous syndrome. Tuberous sclerosis.Neurofibromatosis (NF-1, NF-2).Von Hippel–Lindau syndrome.Sturge–Weber syndrome.Osler–Weber Rendu syndrome.
Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience
Published in Postgraduate Medicine, 2019
Eleftheria Kokkinou, Kleoniki Roka, Alexis Alexopoulos, Efthymia Tsina, Ioannis Nikas, Panagiotis Krallis, Ioanna Thanopoulou, Lambrini Nasi, Evanthia Makrygianni, Eirini Tsoutsou, Konstantina Kosma, Maria Tsipi, Maria Tzetis, Helen Frysira, Antonis Kattamis, Roser Pons
Neurocutaneous syndromes (NCS), also known as phakomatoses, represent a diverse group of congenital multisystemic disorders that encompass abnormalities of neuroectodermal and, at times, mesodermal development, hence preferentially affecting the skin and the central nervous system (CNS). Patients with NCS generally present during infancy or early childhood. Some of the manifestations develop over time, and in many patients, there is a predisposition to develop benign and malignant tumors. Thus, it is of great importance to provide multidisciplinary and comprehensive care to manage these conditions. More than 50 forms of NCS have been described to date. Most of them are classified as single-gene disorders with variable type of inheritance. The most common NCS seen in clinical practice are neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC) [1–3].
Treatment of café-au-lait macules with a high-fluenced 1064-nm Q-switched neodymium:yttrium aluminum garnet laser
Published in Journal of Cosmetic and Laser Therapy, 2018
Jiehoon Kim, Hoon Hur, Yu Ri Kim, Sung Bin Cho
A 30-year-old female patient visited our clinic presenting with large, dark-brownish, well-demarcated pigmented patches on the right knee and lower leg (Figure 1a). The lesions began to appear at the age of 1 year without any evidence of an associated neurocutaneous syndrome. She had not previously been treated with any topical agents or laser/light devices. The pigmented lesions were clinically diagnosed as CALMs, and non-ablative, high-fluenced, QS 1064-nm Nd:YAG laser treatments were performed after obtaining written informed consent from the patient. Without application of any topical anesthetics, QS 1064-nm Nd:YAG energy using the SPECTRA (Lutronic Corp., Goyang, Korea) device was delivered on the pigmented lesions at a spot size of 7 mm, a fluence of 2.4 J/cm2, and a pulse rate of 10 Hz for one to two passes until the appearance of mild erythema at treatment intervals of 2 weeks. Immediately after treatment, the treated area was cooled with ice packs; no prophylactic systemic or topical corticosteroids and antibiotics were prescribed. The patient was instructed to avoid excessive sun exposure and to apply a broad-spectrum sunscreen over the duration of the treatment period. The patient experienced the near-complete disappearance of CALMs after 14 sessions of laser treatment without remarkable major side effects, except for a mild form of mottled dyspigmentation (Figure 1b). Furthermore, no evidence of recurrence was recorded after 1 year.
Ocular manifestations of systemic diseases in children
Published in Clinical and Experimental Optometry, 2023
Cheefoong Chong, Ann L Webber, Shuan Dai
Neurofibromatosis is a type of phakomatoses/neurocutaneous syndrome. This heterogenous group of diseases manifests with the presence of harmatomas (growth of abnormal mix of normal tissues at their usual location) in multiple organ systems. Due to the heterogeneity of the disease, a specific diagnostic criterion for NF1 was established in 1988 in which individuals need to have two of the seven diagnostic features of NF1.40 Subsequently, the NF1 gene was discovered, inherited in an autosomal dominant fashion, and is positive in > % of individuals who meet the NF1 diagnostic criteria. Children with NF1 usually have cutaneous multiple café-au-lait spots and neurofibromas.