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Café au lait spots

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https://www.readbyqxmd.com/read/29770905/congenital-grouped-albinotic-spots-of-the-retinal-pigment-epithelium-in-a-patient-with-hemihypertrophy-and-caf%C3%A3-au-lait-spots
#1
Eugenia C White, Jesse D Sengillo, Galaxy Y Cho, Mathieu F Bakhoum, Stephen H Tsang
PURPOSE: To describe the finding of circularly grouped hypomelanotic spots in the central macula of a patient with syndromic characteristics. METHODS: Case report of a patient with albinotic spots grouped within the macula, café au lait spots, and left-sided hemihypertrophy. RESULTS: A 15-year-old boy presented with hypomelanotic spots which were hyperautofluorescent on fundus autofluorescence imaging with no disruption of the retinal laminae or photoreceptor inner and outer segment (IS/OS) junction on spectral domain optical coherence tomography...
May 16, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29738061/use-of-ultrasound-guided-supraclavicular-brachial-plexus-block-as-an-anesthesia-technique-in-a-patient-with-neurofibromatosis-type-1-a-case-report
#2
Emine Aysu Şalvız, Emre Sertaç Bingül, Meltem Savran Karadeniz, Ömer Berköz, Erman Ak, Kamil Mehmet Tuğrul
Neurofibromatosis type 1 is an autosomal dominant condition characterized by cutaneous and/or plexiform neurofibromas and hyperpigmented café-au-lait spots. It affects multiple endocrine and visceral organs and can be associated with several difficulties such as potential airway (ventilation/intubation) problems, abnormal spinal anatomy, and peripheral neurofibromas. Therefore, anesthesia technique selection becomes more of an issue in terms of avoiding complications and decreasing morbidity and mortality...
April 2018: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
https://www.readbyqxmd.com/read/29726114/high-fluence-1064-nm-q-switched-nd-yag-laser-safe-and-effective-treatment-of-caf%C3%A3-au-lait-macules-in-asian-patients
#3
Jin Ok Baek, Il-Joong Park, Kyung Real Lee, Ha Ryeong Ryu, Jeongsoo Kim, Seulki Lee, Yu Ri Kim, Hoon Hur
OBJECTIVES: Café-au-lait macules (CALMs) are benign cutaneous hyperpigmentary disorders. Usually, laser therapies for cosmetic concerns result in more severe side effects in the people of Asian descent than that of Caucasians. Unfortunately, there is no gold standard for the laser treatment of CALMs in skin of people of Asian descent. To investigate the efficacy and safety of a high-fluence 1064-nm Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser treatment of CALMs in Asian patients...
May 3, 2018: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/29693785/clinical-spectrum-of-kiaa2022-pathogenic-variants-in-males-case-report-of-two-boys-with-kiaa2022-pathogenic-variants-and-review-of-the-literature
#4
Melissa Lorenzo, Irene Stolte-Dijkstra, Patrick van Rheenen, Ronald Garth Smith, Tom Scheers, Jagdeep S Walia
KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual disabilities, limited language development, strikingly similar autistic behavior, delay in motor milestones, and postnatal growth restriction. Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, café-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29666462/tranilast-inhibits-the-expression-of-genes-related-to-epithelial-mesenchymal-transition-and-angiogenesis-in-neurofibromin-deficient-cells
#5
Ritsuko Harigai, Shigeki Sakai, Hiroyuki Nobusue, Chikako Hirose, Oltea Sampetrean, Noriaki Minami, Yukie Hata, Takashi Kasama, Takanori Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Kazuo Kishi, Hideyuki Saya, Yoshimi Arima
Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas. NF1 encodes the tumour suppressor protein neurofibromin, which negatively regulates the small GTPase Ras, with the constitutive activation of Ras signalling resulting from NF1 mutations being thought to underlie neurofibroma development. We previously showed that knockdown of neurofibromin triggers epithelial-mesenchymal transition (EMT) signalling and that such signalling is activated in NF1-associated neurofibromas...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29618358/clinical-and-molecular-characterization-of-112-single-center-patients-with-neurofibromatosis-type-1
#6
Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
BACKGROUND: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features...
April 4, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29599748/polyostotic-fibrous-dysplasia-with-and-without-mccune-albright-syndrome-clinical-features-in-a-nordic-pediatric-cohort
#7
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients ( n  = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29503567/the-investigation-for-potential-modifier-genes-in-patients-with-neurofibromatosis-type-1-based-on-next-generation-sequencing
#8
Fan Yang, Song Xu, Renwang Liu, Tao Shi, Xiongfei Li, Xuebing Li, Gang Chen, Hongyu Liu, Qinghua Zhou, Jun Chen
Introduction: Neurofibromatosis type 1 (NF1) is a common Mendelian multi-system disorder that is characterized by café-au-lait spots (CLS), axillary freckling, optic glioma and plexiform neurofibroma. Various mutations of the NF1 gene are widely accepted to be the main cause of this disease, while whether there are still certain other modifier genes that could influence the phenotypes of NF1 is our concern. Patients and Methods: One proband and his father are involved, who are characterized by plexiform neurofibroma and cutaneous neurofibroma, respectively...
2018: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29398874/intraductal-papillary-bile-duct-adenocarcinoma-and-gastrointestinal-stromal-tumor-in-a-case-of-neurofibromatosis-type-1
#9
Jung Min Lee, Jae Min Lee, Jong Jin Hyun, Hyuk Soon Choi, Eun Sun Kim, Bora Keum, Yoon Tae Jeen, Hoon Jai Chun, Hong Sik Lee, Chang Duck Kim, Dong Sik Kim, Joo Young Kim
We report our experience with a synchronous case of gastrointestinal stromal tumor (GIST) and intraductal papillary neoplasm of the bile duct (IPNB) in an elderly woman with neurofibromatosis type 1 (NF-1). A 72-year-old woman presented with a 2-mo history of right upper abdominal pain unrelated to diet and indigestion. Fourteen years earlier, she had been diagnosed with NF-1, which manifested as café au lait spots and multiple nodules on the skin. Computed tomography (CT) revealed a multilocular low-density mass with septation, and mural nodules in the right hepatic lobe, as well as a 1...
January 28, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29382000/endovascular-management-of-renal-artery-aneurysms-induced-by-neurofibromatosis-type-1-a-case-report
#10
Bihui Zhang, Yinghua Zou, Min Yang, Guochen Niu
RATIONALE: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cafe au lait macules and neurofibromatosis. Renal artery aneurysms are relatively uncommon. Endovascular techniques are effective in treating renal aneurysms but successful cases are rarely reported in NF-1 adults. PATIENT CONCERNS: The patient was one 23-year-old female presented with hypertension, multiple café-au-lait spots ≥15 mm, and plexiform neurofibroma. Renal artery aneurysms were found by ultrasound...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29364453/moyamoya-syndrome-associated-with-neurofibromatosis-type-1-in-a-pediatric-patient
#11
Natália Battisti Serafini, Cássio Battisti Serafini, Alanna Santoro Vinhas, Marcio Barbosa Godinho
Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome...
November 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29302048/diagnostic-challenges-in-a-child-with-early-onset-desmoplastic-medulloblastoma-and-homozygous-variants-in-msh2-and-msh6
#12
Julia Taeubner, Katharina Wimmer, Martine Muleris, Olivier Lascols, Chrystelle Colas, Christine Fauth, Triantafyllia Brozou, Joerg Felsberg, Jasmin Riemer, Michael Gombert, Sebastian Ginzel, Jessica I Hoell, Arndt Borkhardt, Michaela Kuhlen
Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additionally display signposting non-neoplastic features, most frequently café-au-lait macules and other pigmentation alterations. We report on a 13-month-old girl suspected of having CMMRD due to a desmoplastic medulloblastoma and a striking skin pigmentation that included multiple café-au-lait macules, hypopigmented areas and Mongolian spots...
March 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29282348/-a-case-of-cowden-syndrome-associated-with-lhermitte-duclos-disease
#13
Hidefumi Suzuki, Kyoko Hosokawa, Michio Ono, Yasuhiro Kojima, Masutaro Kanda, Hiroshi Shibasaki
A 24-year-old woman slowly developed mild unsteadiness of gait. Neurological examination revealed mild dysmetria of the left upper and lower limbs. Standing and gait were unsteady, and tandem gait was impossible. Cranial magnetic resonance imaging (MRI) showed an enlarged left cerebellar hemisphere with striated lines, a characteristic finding of Lhermitte-Duclos disease. She also had papules on the forehead, goiter, lactating adenoma, glycogenic acanthosis in the esophagus, café-au-lait spot, and hemangioma and keratosis on the dorsum of foot...
December 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29250697/two-girl-patients-with-medulloblastoma-case-reports
#14
Laura Daniela Marinău, Cristina Elena Singer, Cristian Meşină, Elena Carmen Niculescu, Ileana Puiu, Ileana Octavia Petrescu, Cristiana Geormăneanu, Augustina Cornelia Enculescu, Daniela Elise Tache, Ştefana Oana Purcaru, Simona Răciulă, Cosmina Lucia Damian
In childhood, the most common type of brain tumors is medulloblastoma, a highly malignant primary brain tumor that is found in the cerebellum or posterior fossa. The tumor mass increases and generates obstructive hydrocephalus. Risk factors (that might be involved in some cases) include the genetic syndrome such as type 1 neurofibromatosis, exposure to ionizing radiation and Epstein-Barr virus. Medulloblastoma is associated with recessively inherited Turcot disease and with conditions as ataxia-telangiectasia syndrome in several cases...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29223476/fecundity-in-an-infertile-man-with-r-15-a-challenge-to-the-current-paradigm
#15
Hamid Kalantari, Hamideh Karimi, Seyed Navid Almadani, Mostafa Fakhri, Pegah Mokhtari, Hamid Gourabi, Anahita Mohseni Meybodi
Ring chromosome 15 [r(15)] is a rare condition with a mild-to-severe growth failure, mental disabilities, café-au-lait spots, specific facial features, fertility difficulties and other minor dysmorphic stigmata. Of almost 50 affected individuals reported in the literature, none were assessed for the precise breakpoint positioning, which creates uncertainty in defining a specific phenotype for the deleted segment. This study reports for the first time the vertical transmission of r(15) in three consecutive generations of a family, including a subfertile man, his mother and his newborn infant...
February 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29098459/picosecond-532-nm-neodymium-doped-yttrium-aluminium-garnet-laser-a-novel-and-promising-modality-for-the-treatment-of-caf%C3%A3-au-lait-macules
#16
Ofir Artzi, Joseph N Mehrabi, Amir Koren, Roni Niv, Moshe Lapidoth, Assi Levi
Café-au-lait macules (CALMs) present as benign hyperpigmented, well-circumscribed spots on the skin for which many patients seek treatment for aesthetic reasons. The objective of this study is to report our experience in treating CALMs using a picosecond 532-nm neodymium-doped yttrium aluminium garnet (PS 532 nm) laser. This is a retrospective case series of 16 patients with CALMs who were treated by a PS 532-nm laser (1-4 treatments, 4-8 weeks apart). Response as seen on clinical photographs was assessed by two independent dermatologists and graded on a scale of 0 (exacerbation) to 5 (95-100% improvement)...
May 2018: Lasers in Medical Science
https://www.readbyqxmd.com/read/29089742/a-case-of-retroperitoneal-malignant-triton-tumor-in-a-nigerian-boy
#17
Jideofor Okechukwu Ugwu, Michael Emeka Onwukamuche, Hyginus O Ekwunife, Jude Kennedy C Emejulu, Victor Modekwe, Osuigwe An Osuigwe
Malignant peripheral nerve sheath tumor is a rare tumor occurring in 5%-10% of all malignant soft tissues sarcomas and triton tumor arising from neurofibromatosis type 1 (NF-1) is even rarer with associated high rate of mortality. No case of triton tumor has been reported in Nigeria to the best of our knowledge. We seek to report a case of lately detected retroperitoneal triton tumor presenting in a 12-year-old Nigerian child who was brought with bilateral lower limb weaknesses, weight loss, and a right lumbar mass...
July 2017: Nigerian Journal of Surgery: Official Publication of the Nigerian Surgical Research Society
https://www.readbyqxmd.com/read/29079545/thsd7a-associated-membranous-nephropathy-in-a-patient-with-neurofibromatosis-type-1
#18
Fujun Lin, Dan Zhang, Juan Chang, Xuanli Tang, Wenbin Guan, Gengru Jiang, Chun Zhu, Fan Bian
Target antigens in idiopathic membranous nephropathy (MN) include the phospholipase A2 receptor (PLA2 R), and in some cases, the thrombospondin type 1 domain-containing 7A (THSD7A). A notable phenomenon is the high rate of cancer (reported to be as high as 20%) in patients with THSD7A-associated MN. Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by NF1 gene mutation, and clinically characterized by multiple cutaneous neurofibromas and café-au-lait spots. In this article, we report a patient with NF1 who developed THSD7A-associated MN when the NF1 skin lesions deteriorated...
February 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28979620/-lisch-nodule-in-neurofibromatosis-type-1
#19
Yassine Abaloun, Yousra Ajhoun
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28966523/treatment-of-laser-therapy-induced-punctate-leukoderma-using-a-308-nm-excimer-laser
#20
Han Mi Jung, Hyub Kim, Ji Hae Lee, Gyong Moon Kim, Jung Min Bae
Punctate leukoderma presents as numerous, distinct, round or oval depigmented spots. Recently, laser therapy-induced punctate leukoderma associated with various Q-switched laser and carbon dioxide laser have been reported. A 25-year-old man presented with numerous, discrete, round, confetti-like, depigmented macules on his left neck. He had undergone 3 sessions of 532-nm Q-switched Neodymium: Yttrium-Aluminum-Garnet laser treatment for café-au-lait macules three years ago. After the last laser treatment session, the punctate leukoderma had been developed...
October 2017: Annals of Dermatology
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