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Cafe-Au-Lait Macule

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61. McCune–Albright syndrome with craniofacial dysplasia: Clinical review and surgical management (PubMed)

McCune–Albright syndrome with craniofacial dysplasia: Clinical review and surgical management Fibrous dysplasia (FD) is a benign fibro-osseous lesion related to an abnormal bone development and replacement by fibrous tissue. FD has three clinical patterns namely monostotic, polyostotic, and the McCune-Albright syndrome (MAS). MAS is a rare genetic disorder (about 3% of all FD's) that comprises a triad of polyostotic FD, café-au-lait skin macules, and precocious puberty. MAS can involve

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2016 Surgical neurology international

62. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only (PubMed)

by the National Institutes for Health (NIH) criteria which include ≥6 Café au Lait macules (CAL) as a defining criterion. The discovery of SPRED1 as a cause of Legius syndrome which is manifested by CAL, freckling and learning difficulties has introduced substantial heterogeneity to the NIH criteria.We have defined the sensitivity of comprehensive RNA analysis on blood of presumed NF1 patients meeting NIH criteria with at least one nonpigmentary criterion and determined the proportion of children with ≥6 CAL

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2016 EBioMedicine

63. Brown Skin Lesion

Skin Lesion , Black Skin Lesion , Skin Lesion Solid Brown , Skin Lesion Solid Black II. Causes: Patches or Plaques Cafe-au-lait patches III. Causes: Macules/Papules/Nodules ( ) s IV. Causes: Generalized Hyperpigmentation See Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Brown Skin Lesion." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Related Topics

2018 FP Notebook

64. Freckles

) MSH ICD10 SnomedCT 267870007 , 201287003 , 156438005 , 699225003 , 403536009 , 72298008 English Freckles , FRECKLES , ephelides , ephelides (diagnosis) , freckle , ephelis , melanotic macule , Sun spots , Freckling , Focal melanosis (morphologic abnormality) , Focal melanosis , Ephelis , Freckle , Ephelides , Ephelides (disorder) , Ephelis (disorder) , Melanotic macule , freckle(s) , freckles Spanish PECAS , Pecas , Manchas solares , melanosis focal , melanosis focal (anomalía morfológica (...) ) , efélides (trastorno) , efélides , mácula melanótica (trastorno) , mácula melanótica , pecas , Efélides Italian Efelidi , Macchie solari , Lentiggini Dutch sproeten , zonnevlekken , ephelis , Sproeten Japanese そばかす , 雀卵斑 , ソバカス , ジャクランハン , 日光斑 , ニッコウハン Portuguese Sardas , SARDA , Manchas provocadas pela exposição ao sol , Efélides French Éphélides , EPHELIDES , Taches dues au soleil , Ephélides , Taches de rousseur German Sommersprossen , Epheliden , SOMMERSPROSSEN , Sonnenflecken , Ephelides Czech

2018 FP Notebook

65. Comparison of Picosecond and Q-switched Laser for Benign Pigmented Lesions Treatment

Pigmented Lesions Device: Picosecond laser Device: Q-switched Nd:YAG laser Phase 4 Detailed Description: Benign pigmented lesions can be divided into epidermal lesions such as freckles, lentigines, solar lentigines or cafe au lait macules and dermal lesions such as Nevus of Ota or Hori's nevus. Q-switched 532 and 1064 nm lasers were reported to be safe and effective in the treatment of these benign pigmented lesions. By using selective photothermolysis theory, both q-switched 532 and 1064 nm lasers

2016 Clinical Trials

66. Plexiform Neurofibroma: A Case Report. (PubMed)

Plexiform Neurofibroma: A Case Report. Plexiform neurofibromas represent an uncommon variant (30%) of neurofibromatosis type 1 (NF-1) in which neurofibromas arise from multiple nerves as bulging and deforming masses involving also connective tissue and skin folds.We report a rare case of a 30-year-old man who presented with a progressive facial deformity that began in early childhood. Skin examination also revealed multiple neurofibromas and café-au-lait macules on the trunk and arms

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2016 Medicine

67. Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report (PubMed)

on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation (...) Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found

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2016 Annals of pediatric endocrinology & metabolism

68. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1. (PubMed)

of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but also any of the diagnostic features of NF1 may be present in a CMMRD patient. This phenotypic overlap may lead to misdiagnosis of CMMRD patients as having NF1, which impedes adequate management of the patients and their families. The spectrum of CMMRD-associated childhood malignancies includes high-grade glioma, acute myeloid leukaemia or rhabdomyosarcoma, also reported as associated with NF1. Reported associations

2016 Clinical Genetics

69. Neurofibromatosis type 1 (NF1)

but essentially complete by the age of 20, although the condition is characterized by exceptional phenotypic variability. The most common features of NF1 include café au lait macules (CALMs; flat skin lesions of increased pigmentation), axillary (underarm) or inguinal freckling, cutaneous or subcutaneous neurofibromas (benign tumors of the peripheral nerve sheath), plexiform neurofibromas (tumors that grow along the length of the peripheral nerve), Lisch nodules (benign iris hamartomas), and intellectual

2010 Health Technology Assessment (HTA) Database.

70. Febrile seizure

sclerosis may be suggested by facial angiofibromas, shagreen or leather patches, periungual fibromas, and hypopigmented macules ('ash-leaf spots'). Neurofibromatosis may be suggested by cafe au lait spots, intertriginous freckling, iris hamartomas, and subcutaneous nodules. Basis for recommendation Basis for recommendation The information on the differential diagnosis of febrile seizure is based on the American Academy of Pediatrics (AAP) clinical practice guideline Febrile seizures: guideline

2013 NICE Clinical Knowledge Summaries

71. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1 (PubMed)

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1 Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple café-au-lait macules, axillary freckling, learning disabilities, and macrocephaly. Legius syndrome resembles a mild

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2015 The Journal of biological chemistry

72. Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery

to the presence of a PN; NF1 mutation analysis will be performed on germline deoxyribonucleic acid (DNA) as described by Messiaen & Wimmer; histologic confirmation of tumor is not necessary in the presence of consistent clinical and imaging findings, but should be considered if malignant transformation of a PN is clinically suspected; additional criteria are as follows: Six or more cafe-au-lait macules (>= 0.5 cm in prepubertal subjects or >= 1.5 cm in post pubertal subjects) Freckling in axilla or groin

2015 Clinical Trials

73. Segmental neurofibromatosis presenting with congenital excessive skin folds (PubMed)

Segmental neurofibromatosis presenting with congenital excessive skin folds Segmental neurofibromatosis (SNF) is a rare type of neurofibromatosis (NF-1) resulting from post-zygotic somatic mutations in the neurofibromin gene that leads to mosaicism. Reported manifestations of SNF include neurofibromas, freckling, or café-au-lait spots limited to a single body region or limb. We present a 5-month-old male referred to our clinic for evaluation of congenital excessive skin folds on the back (...) . A mildly erythematous, poorly demarcated soft plaque was noted, consisting of excessive skin folds. A cluster of light brown hyperpigmented macules was seen overlying the plaque. A punch biopsy of the plaque confirmed a diagnosis of neurofibroma. Further investigation ruled out other manifestations of NF-1. The early onset of our patient's neurofibroma and its gross appearance with redundant skin folds are all unusual features. To our knowledge, congenital excessive skin folds found in a single tumor

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2015 Dermatology practical & conceptual

74. PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN)

of a nerve and may involve multiple fascicles and branches. A spinal PN involves two or more levels with connection between the levels or extending laterally along the nerve. In addition to PN, all study subjects must have either positive genetic testing for NF1 confirmed in a CLIA certified laboratory or have at least one other diagnostic criterion for NF1 listed below (NIH Consensus conference): Six or more cafe-au-lait macules (greater than or equal to 0.5cm in prepubertal subjects or greater than

2015 Clinical Trials

75. Lasers and laser-like devices: Part two. (PubMed)

Lasers and laser-like devices: Part two. Part two of this review series evaluates the use of lasers and laser-like devices in dermatology based on published evidence and the collective experience of the senior authors. Dermatologists can laser-treat a wide range of dermatoses, including vascular, pigmentary, textural, benign proliferative and premalignant conditions. Some of these conditions include vascular malformation, haemangioma, facial telangiectases, café-au-lait macules, naevi of Ota

2014 Australasian Journal of Dermatology

76. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. (PubMed)

us to the proper diagnosis.We report a 8-year-old male with multiple café-au-lait macules, several lentigines and dysmorphic features that suggest Noonan syndrome initially diagnosed with Neurofibromatosis-Noonan syndrome. However, after a few years of clinical and ophthalmological follow-up, the absence of typical features of Neurofibromatosis type 1 and the lack of NF1 mutation led us to reconsider the original diagnosis. A new examination of the patient and his similarly affected father, who

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2014 BMC Medical Genetics

77. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. (PubMed)

, DNA sequencing, and microsatellite analyses. Minisatellite sequences across different species were compared using a gready clustering algorithm and genome-wide analysis of the distribution of minisatellite sequences was performed using R statistical software.We report four unrelated families with 16q24.1 duplications encompassing entire FOXF1. In a 4-year-old boy with speech delay and a café-au-lait macule, we identified an ~15 kb 16q24.1 duplication inherited from the reportedly healthy father

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2014 BMC Medical Genetics

78. Atypical naevus spilus: detection by in vivo confocal microscopy. (PubMed)

Atypical naevus spilus: detection by in vivo confocal microscopy. Naevus spilus (NS) is a naevoid disorder characterized by hyperpigmented macules or papules scattered over a café-au-lait macule. Such café-au-lait macules are often present at birth, and the darker pigmented speckles of NS slowly increase in number and size over a period of several years. NS can therefore be difficult to evaluate clinically for the development of melanoma. In vivo confocal microscopy (IVCM) is a novel method

2014 Clinical & Experimental Dermatology

80. Neurological History and Physical Examination (Overview)

dorsal root ganglia. Coffee-brown pigmented (ie, caf é; au lait) spots of varying sizes, usually greater than 1.5 cm in diameter, and axillary freckling are seen in neurofibromatosis. These are observed in addition to or in the absence of the characteristic blubbery subcutaneous tumors that give the condition its name. See the image below. Axillary freckling as seen in neurofibromatosis. Tufts of hair (satyr's tail), dimples, and large moles along the spine may indicate spina bifida occulta (...) . If the examiner can hear the sound after the patient has stopped hearing it, then hearing loss is suspected. The vestibular portion of the nerve enters the brainstem along with the cochlear portion. It transmits information about linear and angular accelerations of the head from the utricle, saccule, and semicircular canals of the membranous labyrinth to the vestibular nucleus. Linear acceleration is monitored by the macules in the utricles and saccules; angular acceleration is monitored by the cristae

2014 eMedicine.com

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