keyword
https://read.qxmd.com/read/33126574/new-insights-into-potocki-shaffer-syndrome-report-of-two-novel-cases-and-literature-review
#1
REVIEW
Slavica Trajkova, Eleonora Di Gregorio, Giovanni Battista Ferrero, Diana Carli, Lisa Pavinato, Geoffroy Delplancq, Paul Kuentz, Alfredo Brusco
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses), and PHF21A (craniofacial anomalies, and intellectual disability). The rest of the PSS phenotype is still not associated with a specific gene. We report a systematic review of the literature and included two novel cases. Because deletions are highly variable in size, we defined three groups of patients considering the PSS-genes involved...
October 28, 2020: Brain Sciences
https://read.qxmd.com/read/32972601/caf%C3%A3-au-lait-spots-when-and-how-to-pursue-their-genetic-origins
#2
REVIEW
Leah Lalor, Olivia M T Davies, Donald Basel, Dawn H Siegel
Café au lait spots are common birthmarks seen sporadically and in association with several genetic syndromes. Dermatologists are often asked to evaluate these birthmarks both by other physicians and by parents. In some cases, it is challenging to know when and how to pursue further evaluation. Diagnostic challenges may come in the form of the appearance of the individual lesions, areas and patterns of cutaneous involvement, and associated features (or lack thereof). In this review, we aim to clarify when and how to evaluate the child with multiple or patterned café au lait spots and to explain some emerging concepts in our understanding of the genetics of these lesions...
July 2020: Clinics in Dermatology
https://read.qxmd.com/read/32939396/schwannoma-and-neurofibroma-originating-from-the-ulnar-nerve-in-neurofibromatosis-a-case-report-and-review-of-the-literature
#3
Ali Tabrizi, Ahmadreza Afshar, Iraj Mohebbi, Masoumeh Pourjabali, Hassan Taleb
Schwannomas and neurofibromas are rare benign tumors originating from the peripheral nerve sheath. Tumors in neurofibromatosis are mostly neurofibromas and often appear in the soft tissue of peripheral nerves. In this report, a patient presented with two large adjacent soft tissue tumors in the right wrist and distal forearm which originated from a common nerve. A schwannoma had formed beside a neurofibroma from the ulnar nerve and induced numbness and paresthesia in the little and ring fingers. Although the patient had café au lait spots on the skin, neurofibromatosis was not suspected due to lack of symptoms...
July 2020: Surgery Journal
https://read.qxmd.com/read/32908010/satisfaction-from-surgical-treatment-and-its-influence-on-the-wellbeing-of-patients-with-recklinghausen-disease-preliminary-report
#4
JOURNAL ARTICLE
Marta Fijałkowska, Bogusław Antoszewski
<b>Background:</b> Neurofibromatosis type 1 (NF-1) is one of the most common autosomal dominant disorders. Multiple benign dermal neurofibromas, café au lait spots, axillary and inguinal freckling are the hallmarks of NF-1. <br><b>Aim:</b> The aim of this paper is to verify if surgical treatment performed in patients with NF-1 is satisfactory to them and to describe demographic factors characteristic for patients with Recklinghausen disease...
May 25, 2020: Polski Przeglad Chirurgiczny
https://read.qxmd.com/read/32905002/somatostatinoma-beyond-neurofibromatosis-type-1-review
#5
REVIEW
Florica Sandru, Mara Carsote, Ana Valea, Simona Elena Albu, Răzvan-Cosmin Petca, Mihai Cristian Dumitrascu
Somatostatinoma is a tumour mainly originating from pancreas or duodenum; overall with an incidence of 1/40 million persons. We introduce a narrative review of literature of somatostatinoma including the relationship with neurofibromatosis type 1. Clinical presentation includes: Diabetes mellitus, cholelithiasis, steatorrhea, abdominal pain, and obstructive jaundice while papillary tumour may cause acute pancreatitis. The neoplasia may develop completely asymptomatic or it is detected as an incidental finding during an imaging or a surgical procedure...
October 2020: Experimental and Therapeutic Medicine
https://read.qxmd.com/read/32842214/-neurofibromatosis-type-%C3%A2-with-parapharyngeal-space-invasion-report-of-one-case
#6
JOURNAL ARTICLE
Yi Hu, Kunlei Chen, Ming Tang, Feng Ren, Lixin Cheng, Yunbin Shi, Yi Chen, Li Wang
<b/> We described a 56-year-old male who was admitted to the hospital due to no sweat on the right side of face for 4 years, and paraesthesia pharynges for 1 month. The physical examination was carried out. And the horizontal local uplift on right lateral wall of pharynx was found with café-au-lait spot scattered all over the right arm. MRI showed a rounded mass on the right parapharyngeal space with clear boundary. Later the tumor was removed by a transoral route with the assist of endoscope. The patient was eventually diagnosed with neurofibromatosis 1 and did not relapse after follow-up...
August 2020: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://read.qxmd.com/read/32820511/-a-genetic-case-study-of-neurofibromatosis-type-1-microdeletion-syndrome-caused-by-atypical-17q11-2-microdeletion
#7
JOURNAL ARTICLE
Shilin Yang, Yuqiong Jiao, Xiang Han, Yihui Chen
OBJECTIVE: To provide appropriate treatment strategy and precise genetic counseling through studying the phenotype and genotype of a patient featuring learning difficulty and abnormal gait. METHODS: Detailed history taking, physical examination and auxiliary examination (including neuropsychological evaluation, brain imaging and skeletal system X ray) were conducted. The patient was also analyzed by whole exome sequencing, G banding karyotyping and array-based comparative genomic hybridization (aCGH)...
September 10, 2020: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/32819790/comparison-of-characteristic-features-and-local-recurrence-in-syndromic-versus-non-syndromic-multifocal-non-ossifying-fibroma
#8
JOURNAL ARTICLE
Khodamorad Jamshidi, Paniz Motaghi, Abolfazl Bagherifard, Misagh Eigi, Hamadalla Hadi Al-Baseesee, Alireza Mirzaei
BACKGROUND: Multiple non-ossifying fibromas (MNOF) could be presented with other extraskeletal anomalies (syndromic) or not (non-syndromic). In this study, we aimed to compare characteristic features and local recurrence between symptomatic syndromic and non-syndromic MNOFs. METHODS: Thirty-five patients with symptomatic MNOF were included in this study, comprised of 30 patients without the café-au-lait spot (non-syndromic) and five with café-au-lait spots plus other signs of neurofibromatosis type 1 (syndromic)...
July 2021: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://read.qxmd.com/read/32762164/-efficacy-and-safety-of-letrozole-in-treatment-of-mccune-albright-syndrome-girls-with-peripheral-precocious-puberty
#9
JOURNAL ARTICLE
De Xu, Wenli Lu, Xueqing Wang, Junqi Wang, Yiwen Xie, Zhiya Dong, Wei Wang
OBJECTIVE: To evaluate the efficacy and safety of the third-generation aromatase inhibitor letrozole in the treatment of McCune-Albright syndrome (MAS) girls with peripheral precocious puberty. METHODS: Twenty-one MAS girls with peripheral precocious puberty treated in Pediatrics Department of Ruijin Hospital, Shanghai Jiao Tong University School of Medicine from March 2012 to June 2017 were enrolled in the study. Patients presented with repeated vaginal bleeding, premature breast enlargement, café-au-lait spots or dysplasia of bone fibers, and low levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH); and the congenital adrenal hyperplasia, estrogen-producing tumors, and exogenous estrogen intake were excluded...
May 25, 2020: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://read.qxmd.com/read/32761593/-genetic-analysis-of-a-child-with-global-developmental-delay-and-neurofibromatosis-type-1
#10
JOURNAL ARTICLE
Xinli Zhang, Guosong Shen, Jun Zhang
OBJECTIVE: To explore the genetic basis for a child with global developmental delay and neurofibromatosis type 1 (NF1). METHODS: The patient underwent clinical examination. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. RESULTS: The child had cafe au lait spots all over her body, pigmentation in the back, and global developmental delay as assessed by Gese II. Cranial MRI revealed globular abnormal density in the lower hemisphere of left posterior cranial fossa...
August 10, 2020: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/32697759/metyrapone-as-treatment-in-the-neonatal-mccune-albright-syndrome
#11
Carmen de Mingo, María Brugada, Sara León, Francisca Moreno, Nieves Vila, Tomás Palanques-Pastor, José Luis Poveda, Carlos Orti, Ana García-Robles
Objectives To present a case report of succesfully metyrapone treatment of a neonatal patient with McCune-Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopathies, bone dysplasia, and café-au-lait spots. Case presentation A preterm newborn was admitted to hospital and she presented difficulty controlling hypertension, café-au-lait spots, and failure to thrive. An abdominal ultrasound and a magnetic resonance showed a high volume of both suprarenal glands...
July 22, 2020: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/32683805/neurofibromatosis-type-i-points-to-be-considered-by-general-pediatricians
#12
JOURNAL ARTICLE
Eungu Kang, Hee Mang Yoon, Beom Hee Lee
Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system...
April 2021: Clinical and experimental pediatrics
https://read.qxmd.com/read/32657748/the-neurofibromatoses
#13
REVIEW
Said Farschtschi, Victor-Felix Mautner, Anna Cecilia Lawson McLean, Alexander Schulz, Reinhard E Friedrich, Steffen K Rosahl
BACKGROUND: Neurofibromatosis of types 1 and 2 (NF1, NF2) and schwannomatosis are the diseases that make up the neurofibromatosis spectrum. With respective incidences of 1 in 3000, 1 in 33 000, and 1 in 60 000 births, they form part of the group of rare tumor-suppressor syndromes. They give rise to a greater tumor burden for the nervous system than any other type of neoplastic disease. New approaches to symptomatic treatment are emerging. METHODS: This review is based on articles retrieved by a selective literature search on the pathogenesis, diagnosis, and treatment of the neurofibromatoses...
May 15, 2020: Deutsches Ärzteblatt International
https://read.qxmd.com/read/32519328/partial-empty-sella-syndrome-gh-deficiency-and-transient-central-adrenal-insufficiency-in-a-patient-with-nf1
#14
JOURNAL ARTICLE
Eleni Magdalini Kyritsi, Maria Hasiotou, Christina Kanaka-Gantenbein
PURPOSE: To describe the case of a 9-year-old male patient with neurofibromatosis type 1 (NF1), partial empty sella (PES), transient central adrenal insufficiency (CAI) and growth hormone (GH) deficiency (GHD) treated with recombinant GH (rGH). METHODS: The diagnosis of GHD was established upon peak GH response <10 ng/mL following glucagon and clonidine stimulation tests. CAI was diagnosed when peak cortisol response was <18 μg/dL following 1 μg Synacthen test (ST) with normal ACTH levels...
August 2020: Endocrine
https://read.qxmd.com/read/32499294/appendiceal-neurofibroma-and-diverticula-in-a-neurofibromatosis-type-1-patient-with-chronic-right-lower-quadrant-pain
#15
JOURNAL ARTICLE
Katrien Van de Steen, Robert Riedl, Sébastien Strypstein, Evert-Jan Boerma
Neurofibromatosis type 1 (NF1, Von Recklinghausen disease) is an autosomal dominant disease with a birth incidence of 1/2500-3000. The most common presentations of NF1 are cutaneous presentations like café-au-lait spots and neurofibromas. 5%-25% of patients with NF1 have gastrointestinal manifestations of the disease. Appendiceal neurofibroma are extremely rare and only a few cases are described in literature. An appendectomy is indicated because of high risk of appendicitis and malignant transformation. We report the case of a 74-year-old male patient with a history of NF1 with chronic right lower quadrant pain...
June 3, 2020: BMJ Case Reports
https://read.qxmd.com/read/32490286/a-rare-case-of-neurofibromatosis-type-i-with-unilateral-congenital-ectropion-uveae-and-glaucoma
#16
Prasanna Venkataraman, Madhuri Manapakkam, Neethu Mohan
PURPOSE: Neurofibromatosis Type I (NF-1) is a neurocutaneous disease affecting the skin, eye and peripheral nervous system. Congenital glaucoma is a rare association, but can be a prelude to the diagnosis of NF-1 later in life. We report this unusual association in a child and discuss the possible underlying pathophysiologic mechanisms. OBSERVATIONS: A nine year old female child on treatment for glaucoma in the right eye was referred to us for definitive management...
September 2020: American Journal of Ophthalmology Case Reports
https://read.qxmd.com/read/32441081/-maxillofacial-manifestations-in-children-and-adolescents-with-neurofibromatosis-1
#17
REVIEW
M V Korolenkova, N V Starikova, A A Basiev
The aim of the study was to summarize literature data on oral and maxillofacial manifestations of neurofibromatosis I (NFI) and to analyze clinical case in with dentist had the leading role in proper diagnosis of the disease. Literature review showed main oral alterations in NFI to be: neurofibroma formation seen in 8-14% of children and adolescents, dysplastic «orthodontic» phenotype with shortened mandible, maxilla and sphenoid bones; radiologic signs including alveolar nerve canal and mental foramen widening in almost one third of patients; lesions of cranial nerves (mainly trigeminal, facial and glossopharyngeal), with non-specific paralysis clinic...
2020: Stomatologii︠a︡
https://read.qxmd.com/read/32388560/localized-hypertrophic-neuropathy-as-a-neoplastic-manifestation-of-kras-mediated-rasopathy
#18
JOURNAL ARTICLE
M Adelita Vizcaino, Allan Belzberg, Shivani Ahlawat, Sarra Belakhoua, Liam Chen, Verena Staedtke, Fausto J Rodriguez
Localized hypertrophic neuropathy is a rare Schwann cell proliferation that usually affects single nerves from the extremities, and it is of unclear etiology in its pure form. RASopathies are a defined group of genetic diseases with overlapping clinical features, usually secondary to germline mutations in genes encoding either components or regulators of the RAS/MAPK pathway. Herein, we report an 11-year-old boy presenting with café au lait spots and right leg length discrepancy. A fascicular nerve biopsy of the tibial nerve demonstrated a Schwann cell proliferation with prominent onion-bulb formation, satisfying criteria for localized hypertrophic neuropathy...
June 1, 2020: Journal of Neuropathology and Experimental Neurology
https://read.qxmd.com/read/32384911/neurofibromatosis-type-1-associated-with-hypophosphatemic-osteomalacia-due-to-hypersecretion-of-fibroblast-growth-factor-23-a-case-report
#19
JOURNAL ARTICLE
Takahiko Obo, Nobuyuki Koriyama, Akinori Tokito, Kazuma Ogiso, Yoshihiko Nishio
BACKGROUND: Neurofibromatosis type 1 is characterized by multiple café au lait spots and cutaneous and plexiform neurofibromas, and is one of the most common autosomal dominant hereditary disorders caused by mutations of the neurofibromatosis type 1 tumor suppressor gene. Osteomalacia in neurofibromatosis type 1 is very rare and is characterized by later onset in adulthood. In humans, fibroblast growth factor 23, which is a causative factor of tumor-induced osteomalacia, is not only a paracrine and autocrine factor, but is also a physiological regulator of phosphate balance in normal serum...
May 9, 2020: Journal of Medical Case Reports
https://read.qxmd.com/read/32357851/chinese-patient-with-neurofibromatosis-noonan-syndrome-caused-by-novel-heterozygous-nf1-exons-1-58-deletion-a-case-report
#20
JOURNAL ARTICLE
Zhen Zhang, Xin Chen, Rui Zhou, Huaixiang Yin, Jiali Xu
BACKGROUND: Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1-58 of the NF1 gene on chromosome 17 in a 15-month-old boy. CASE PRESENTATION: A 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum, cryptorchidism, secondary atrial septal defect, and UBOs (undefined bright objects) revealed by cranial MRI T2FLAIR in basal ganglia and cerebellum...
May 1, 2020: BMC Pediatrics
keyword
keyword
74836
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.