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213 results for

Cafe-Au-Lait Macule

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161. Nevus anemicus in neurofibromatosis type 1: A potential new diagnostic criterion. (PubMed)

Nevus anemicus in neurofibromatosis type 1: A potential new diagnostic criterion. Children with multiple café-au-lait macules (CALMs) may be followed for years before a second National Institutes of Health clinical criterion of neurofibromatosis type 1 (NF1) develops to confirm the diagnosis.We sought to assess the prevalence of nevus anemicus (NA) in NF1 and its association with neuro-ophthalmologic complications.This was a prospective multicenter case-control study of 210 consecutive patients

2013 Journal of American Academy of Dermatology

162. Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. (PubMed)

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A phenotype of predominantly spinal

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2013 Journal of Medical Genetics

163. Dermatologic manifestations of ataxia-telangiectasia syndrome. (PubMed)

. Complete skin examination was done by a single dermatologist. Information about mutations and neurologic status was extracted from the patients' charts. Relevant demographic, clinical, and laboratory characteristics of all patients were collected and summarized.Of the 32 patients, 97% had ocular telangiectasia, the hallmark of the disease. Telangiectasia on other body parts was less frequent. Pigmentary anomalies included café-au-lait macules (84%), hypopigmented macules (44%), and melanocytic nevi (37

2013 Journal of American Academy of Dermatology

164. Mongolian spots: How important are they? (PubMed)

with various vascular or other pigmented birthmarks like café-au-lait macules. Co-existing Mongolian spots and vascular birthmarks like nevus flammeus, nevus anemicus or nevus spilus is termed as phakomatosis pigmentovascularis. This review focuses on the important associations of Mongolian spots and stresses upon the importance of screening babies with extensive MS.

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2013 World Journal of Clinical Cases : WJCC

165. Hansen's disease with McCune–Albright syndrome (PubMed)

Hansen's disease with McCune–Albright syndrome McCune-Albright syndrome (MAS) comprises a triad of fibrous dysplasia of bone, café-au-lait macule, and endocrinopathy. The disease is due to activating mutation of G protein-coupled receptor leading to hyperfunction of glands. Hansen's disease is caused by infection with Mycobacterium leprae and is seen with underlying immunosuppressed conditions in genetically predisposed individuals. We recently encountered a patient with Hansen's disease

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2012 Journal of global infectious diseases

166. A Prospective Study of Cutaneous Findings in Newborns in the United States: Correlation with Race, Ethnicity, and Gestational Status Using Updated Classification and Nomenclature. (PubMed)

%), followed by infantile hemangioma (4.5% by age 3 months), capillary malformation (0.3%), and rapidly involuting congenital hemangioma (0.3%). Pigmented lesions seen at birth included dermal melanocytosis (20%), congenital melanocytic nevi (2.4%), and café au lait macules (2%). Other common skin findings were erythema toxicum neonatorum (7%), milia (8%), and sebaceous gland hyperplasia (42.6%).This study of congenital cutaneous lesions, using current nomenclature and data acquired by pediatric cutaneous

2012 Journal of Pediatrics

167. Modifying Genes in Neurofibromatosis 1

Volunteers: No Sampling Method: Non-Probability Sample Study Population Adult patients with neurofibromatosis 1 according to the NIH criteria followed in NF France network, a national network devoted in to neurofibromatosis 1 Criteria Inclusion Criteria: Aged of 18 or more Patient with neurofibromatosis 1 according the NIH criteria : Six or more café au lait macules over 15 mm in greatest diameter in postpubertal individuals Two or more neurofibromas of any type or one plexiform neurofibroma Freckling (...) Description: Neurofibromatosis 1(NF1) is a rare autosomal dominant disorder with an incidence of one birth out of 3000. NF1 gene is located in 17q11.2. The penetrance is near 100% by the age of 8 and the de novo mutations represent half the cases. The product of NF1 gene is neurofibromin, a protein controlling cellular differentiation and proliferation. Phenotypic expression is variable even in the same family. Neurofibromatosis 1 is characterized by café au lait spots, freckling of the folds

2012 Clinical Trials

168. 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

2015 FP Notebook

169. 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

2015 FP Notebook

170. LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD (PubMed)

cardiomyopathy and/or café-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.

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2011 Annals of dermatology

171. Laser eradication of pigmented lesions: a review. (PubMed)

Laser eradication of pigmented lesions: a review. Pigmented lesions include solar lentigines, seborrheic keratoses, dermatosis papulosa nigra, ephelides, café-au-lait macules, nevus spilus, Becker's nevus, postinflammatory hyperpigmentation, melasma, nevocellular nevi, congenital nevi, junctional and compound melanocytic nevi, nevus of Ota and Ito, Hori's nevus, and blue nevi. Advances in laser technology have resulted in the ability to treat pigmented lesions with greater safety

2011 Dermatologic Surgery

172. AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors

is defined as a neurofibroma that has grown along the length 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 or have at least one other diagnostic criterion for NF1 listed below: (NIH Consensus conference): Six or more caf(SqrRoot)(Copyright)-au-lait macules (greater than or equal to 0.5cm

2011 Clinical Trials

173. The SPRED1 Variants Repository for Legius Syndrome (PubMed)

The SPRED1 Variants Repository for Legius Syndrome Legius syndrome (LS) is an autosomal dominant disorder caused by germline loss-of-function mutations in the sprouty-related, EVH1 domain containing 1 (SPRED1) gene. The phenotype of LS is multiple café au lait macules (CALM) with other commonly reported manifestations, including intertriginous freckling, lipomas, macrocephaly, and learning disabilities including ADHD and developmental delays. Since the earliest signs of LS and neurofibromatosis

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2011 G3: Genes|Genomes|Genetics

174. Seizure Disorders

of spontaneous venous pulsations (noted during funduscopy) Increased intracranial pressure (specificity is 80–90%*) Focal neurologic defects (eg, asymmetry of reflexes or muscle strength) Structural abnormality (eg, , ) Postictal paralysis Generalized neuromuscular irritability (eg, tremulousness, hyperreflexia) Drug toxicity (eg, sympathomimetics) Withdrawal syndromes (eg, of or ) Certain metabolic disorders (eg, , ) Skin lesions (eg, axillary freckling or café-au-lait spots, hypomelanotic skin macules

2013 Merck Manual (19th Edition)

175. Hyperpigmentation

injury, inflammation, phytophotodermatitis, lentigines, melasma, freckles, café-au-lait macules, and acanthosis nigricans. Common causes of widespread hyperpigmentation include melasma, drugs, cancers, and other systemic disorders. Test patients who have widespread hyperpigmentation not caused by drugs for primary biliary cholangitis, hemochromatosis, and Addison disease. Treat melasma initially with a combination of hydroquinone 2 to 4%, tretinoin 0.05 to 1%, and a class V to VII topical (...) light combined with psoralens (specifically furocoumarins) in plants (eg, limes, parsley, celery—see ). Focal hyperpigmentation can also result from neoplastic processes (eg, , ), , freckles, or café-au-lait . causes focal hyperpigmentation and a velvety plaque most often on the axillae and posterior neck. can result from drugs and also has systemic and neoplastic causes (especially lung carcinomas and melanoma with systemic involvement). After eliminating drugs as a cause of diffuse

2013 Merck Manual (19th Edition)

176. Neurofibromatosis

with neurologic symptoms or bone deformities. In > 90%, characteristic skin lesions are apparent at birth or develop during infancy. Café-au-lait lesions are medium-brown (café-au-lait), freckle-like macules, distributed most commonly over the trunk, pelvis, and flexor creases of elbows and knees. Although children who do not have neurofibromatosis may have 2 or 3 café-au-lait lesions, children who have NF1 have ≥ 6 such macules and often many more. These macules are > 5 mm in affected prepubertal children (...) , weakness, or widespread sensory loss in that nerve distribution. Plexiform neurofibromas that compress cranial nerves cause deficits typical of those nerves. Skin Manifestations of Neurofibromatosis Type 1 This photo shows multiple neurofibromas (raised brownish nodules) and café au lait spots (flat brownish spots) on the back of a patient with neurofibromatosis. This patient with neurofibromatosis type 1 has multiple café-au-lait spots (rounded hyperpigmented macules) and neurofibromas (raised nodules

2013 Merck Manual (19th Edition)

177. Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome. (PubMed)

Clinical and Mutational Spectrum of Neurofibromatosis Type 1-like Syndrome. Autosomal dominant inactivating sprouty-related EVH1 domain-containing protein 1 (SPRED1) mutations have recently been described in individuals presenting mainly with café au lait macules (CALMs), axillary freckling, and macrocephaly. The extent of the clinical spectrum of this new disorder needs further delineation.To determine the frequency, mutational spectrum, and phenotype of neurofibromatosis type 1-like syndrome

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2009 JAMA

178. Tuberous sclerosis

, and neuropsychological problems. Scan the abdomen for tumours in various organs, but most importantly angiomyolipomata in the kidneys. MRI is superior to CT or ultrasound. Take blood pressure and test renal function. In adult women, test pulmonary function and perform a (HRCT) of the chest. Examine the skin under a Wood's lamp (hypomelanotic macules), the fingers and toes (ungual fibroma), the face (angiofibromas), and the mouth (dental pits and gingival fibromas). In infants under three, perform an to spot (...) ). "Metastasis of benign tumor cells in tuberous sclerosis complex". Genes, Chromosomes & Cancer . 38 (4): 376–81. : . . ^ Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (November 2014). . Journal of the American Heart Association . 3 (6): e001493. : . . . ^ Northrup H, Krueger DA (October 2013). . Pediatric Neurology . 49 (4): 243–54. : . . . ^ Northrup H, Koenig MK, Pearson DA, Au KS (1993). . In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A. GeneReviews . Seattle (WA

2012 Wikipedia

179. Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome. (PubMed)

haemangiomas occurred at a greater frequency, 26% (16/61), as compared with the general population.CFC syndrome has a complex dermatological phenotype with many cutaneous features, some of which allow it to be differentiated from the other Ras/MAPK pathway syndromes. Multiple café-au-lait macules and papillomas were not identified in this CFC cohort, helping to distinguish CFC from other RASopathies such as neurofibromatosis type 1 and Costello syndrome.© 2011 The Authors. BJD © 2011 British Association

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2010 British Journal of Dermatology

180. The Gastrointestinal Phenotype of Germline Biallelic Mismatch Repair Gene Mutations. (PubMed)

(range: 5-28). More than one-third of patients had multiple colorectal adenomas (>10 polyps). Six individuals with biallelic MMR gene mutations have been reported with small bowel adenocarcinoma (mean age 20 years (range: 11-41)). Café-au-lait (CAL) macules were reported in 72% and, based on mutation analysis, consanguinity was suspected in 52% of kindred. Of the 29 kindred, 19 (66%) had PMS2 mutations, 6 (21%) had MSH6 mutations, 3 (10%) had MLH1 mutations, and 1 (3%) had MSH2 mutation.Biallelic MMR

2010 American Journal of Gastroenterology

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