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Cafe-Au-Lait Macule

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1. Cafe-Au-Lait Macule

Cafe-Au-Lait Macule Cafe-Au-Lait Macule Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Cafe-Au-Lait Macule Cafe-Au-Lait Macule Aka (...) : Cafe-Au-Lait Macule , Cafe-Au-Lait Spot , Cafe Au Lait II. Pathophysiology Congenital or develops in early childhood from increased deposition III. Epidemiology Often present at birth Isolated lesions are common (present in up to 10-30% of the population) IV. Symptoms Asymptomatic V. Signs "Coffee with milk" (tan to brown) colored flat Usually located on trunk Size varies from <4 cm in infants to 20-30 cm in adults VI. Red Flags: Criteria to consider associated congenital conditions below Six

2018 FP Notebook

2. Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1 (PubMed)

Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1 30065955 2018 11 14 2376-7839 4 4 2018 Aug Neurology. Genetics Neurol Genet Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1. e261 10.1212/NXG.0000000000000261 Freret Morgan E ME Department of Neurology (M.E.F., C.A., D.H.G.), Washington University School of Medicine, Saint Louis, MO; and Harvard Medical School (M.E.F.), Boston, MA. Anastasaki Corina

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2018 Neurology: Genetics

3. Preliminary experience of the Q-switched 1064-nm neodymium:yttrium aluminum garnet laser in the treatment of Café-au-lait macules. (PubMed)

Preliminary experience of the Q-switched 1064-nm neodymium:yttrium aluminum garnet laser in the treatment of Café-au-lait macules. Solitary CALMs are a common finding and they occur in 10-20% of the normal polulation. Although benign, CALMs in exposed parts of the body(face, forearms, neck et al) are cosmetically distressing to patients. Various types of laser devices have been utilized to remove CALMs over the years with high rates of recurrence and adverse events. Based on the theory

2018 Journal of the European Academy of Dermatology and Venereology

4. Response to Laser Treatment of Café au Lait Macules Based on Morphologic Features. (PubMed)

Response to Laser Treatment of Café au Lait Macules Based on Morphologic Features. Response to laser treatment for café au lait macules (CALMs) is inconsistent and difficult to predict.To test the hypothesis that irregularly bordered CALMs of the "coast of Maine" subtype respond better to treatment than those of the smooth-bordered "coast of California" subtype.This retrospective case series included patients from 2 multiple-clinician US practices treated from 2005 through 2016. All patients

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2017 JAMA dermatology (Chicago, Ill.)

5. Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules. (PubMed)

Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules. Although isolated cafe-au-lait macules (CALMs) are a common skin finding, they are an early feature of neurofibromatosis type 1 (NF1).We sought to develop an algorithm determining the risk of children with CALMs to have constitutional NF1.We conducted a retrospective study of patients with isolated CALMs. Diagnosis of NF1 was based on detecting NF1 mutation in blood or fulfilling clinical criteria.In all (...) , 170 of 419 (41%) and 21 of 86 (24%) children with isolated CALMs who underwent molecular testing and clinical follow-up, respectively, were given a diagnosis of NF1. Presence of fewer than 6 CALMs at presentation or atypical CALMs was associated with not having NF1 (P < .001). An algorithm based on age, CALMs number, and presence of atypical macules predicted NF1 in both cohorts. According to the algorithm, children older than 29 months with at least 1 atypical CALM or less than 6 CALMs have a 0.9

2017 Journal of American Academy of Dermatology

6. Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib. (PubMed)

Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib. Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis (...) , and dysphagia. They have been described with mutations in c-kit (most commonly), platelet-derived growth factor receptor A, neurofibromatosis-1, and succinate dehydrogenase genes.We report on molecular characterization and tumor histopathology of two siblings in whom lentigines and café-au-lait macules were present along with multifocal GIST. Immuhistochemical analysis of CD34 and CD117 was performed on GIST biopsy samples from both siblings, while c-kit mutational analysis was done by PCR and direct

2017 International Journal of Dermatology

7. Molecular screening strategies for NF1-like syndromes with café-au-lait macules (PubMed)

Molecular screening strategies for NF1-like syndromes with café-au-lait macules Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders

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2016 Molecular medicine reports

8. Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation (PubMed)

Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation 29693058 2019 02 26 2352-5126 4 4 2018 May JAAD case reports JAAD Case Rep Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation. 318-321 10.1016/j.jdcr.2017.10.005 Nagaputra Jerry C JC Dermatology Service, KK Women's & Children's Hospital, Singapore. Koh Mark J A MJA Dermatology Service, KK Women's (...) & Children's Hospital, Singapore. eng Case Reports 2018 03 31 United States JAAD Case Rep 101665210 2352-5126 CALM, café-au-lait macules NF1, neurofibromatosis type 1 TK, tyrosine kinase 2018 4 26 6 0 2018 4 26 6 0 2018 4 26 6 1 epublish 29693058 10.1016/j.jdcr.2017.10.005 S2352-5126(17)30253-9 PMC5911795 Am J Med Genet A. 2012 May;158A(5):1195-9 22438235 Am J Med Genet A. 2003 Oct 1;122A(2):125-32 12955764 J Invest Dermatol. 1993 Jul;101(1):22-5 7687267 Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8696-9

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2018 JAAD Case Reports

9. Cafe-Au-Lait Macule

Cafe-Au-Lait Macule Cafe-Au-Lait Macule Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Cafe-Au-Lait Macule Cafe-Au-Lait Macule Aka (...) : Cafe-Au-Lait Macule , Cafe-Au-Lait Spot , Cafe Au Lait II. Pathophysiology Congenital or develops in early childhood from increased deposition III. Epidemiology Often present at birth Isolated lesions are common (present in up to 10-30% of the population) IV. Symptoms Asymptomatic V. Signs "Coffee with milk" (tan to brown) colored flat Usually located on trunk Size varies from <4 cm in infants to 20-30 cm in adults VI. Red Flags: Criteria to consider associated congenital conditions below Six

2015 FP Notebook

10. A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling (PubMed)

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock (...) . No potentially pathogenic variant was identified in SLUG or NF1 genes. The nucleotide substitution was not found in 100 unrelated control individuals. This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1).

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2015 Therapeutics and clinical risk management

11. Halo naevi and café au lait macule regression in a renal transplant patient on immunosuppression. (PubMed)

Halo naevi and café au lait macule regression in a renal transplant patient on immunosuppression. A case of halo naevi and café au lait macule regression in a renal transplant patient receiving long-term immunosuppressive therapy is described. We propose the direct transfer of an auto-reactive antibody, CD8 T-cells or tumour necrosis factor α from the transplant donor to the recipient as a possible cause. We have also considered insufficient immunosuppressive therapy as a possible mechanism. ©

2014 Australasian Journal of Dermatology

12. Choroidal abnormalities in café-au-lait syndromes: A new differential diagnostic tool ? (PubMed)

Choroidal abnormalities in café-au-lait syndromes: A new differential diagnostic tool ? The best known café-au-lait syndrome is neurofibromatosis type 1 (NF1). Legius syndrome (LS) is another, rarer syndrome with café-au-lait macules (CALMs). In young patients their clinical picture is often indistinguishable. We investigated the presence of choroidal abnormalities in syndromes with CALMs as a candidate tool for a more efficient diagnosis. Thirty-four patients with NF1 (14 with a truncating

2016 Clinical Genetics

13. Treatment of café au lait macules in Chinese patients with a Q-switched 755-nm alexandrite laser. (PubMed)

Treatment of café au lait macules in Chinese patients with a Q-switched 755-nm alexandrite laser. Café au lait macules (CALMs) are a benign epidermal hyperpigmentation disorder. Although CALMs have been removed successfully with lasers, there have been few investigations on the use of the Q-switched 755-nm alexandrite laser.To evaluate the efficacy and safety of the Q-switched 755-nm alexandrite laser for the treatment of CALMs in Chinese patients.In this retrospective study, data of CALMs

2011 Journal of Dermatological Treatment

14. Caf&#233 (Overview) Au Lait Spots (Overview)

: May 20, 2018 Author: William D James, MD; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Cafe Au Lait Spots Overview Background Café au lait spots, or café au lait (CAL) macules (CALMs), are hyperpigmented lesions that may vary in color from light brown to dark brown; [ ] this is reflected by the name of the condition, which means "coffee with milk." The borders may be smooth or irregular. The size and number of café au lait skin lesions widely vary (...) (3):477-83. . Alora MB, Arndt KA. Treatment of a cafe-au-lait macule with the erbium:YAG laser. J Am Acad Dermatol . 2001 Oct. 45(4):566-8. . Alster TS. Complete elimination of large café-au-lait birthmarks by the 510-nm pulsed dye laser. Plast Reconstr Surg . 1995 Dec. 96(7):1660-4. . Wang Y, Qian H, Lu Z. Treatment of café au lait macules in Chinese patients with a Q-switched 755-nm alexandrite laser. J Dermatolog Treat . 2012 Dec. 23(6):431-6. . Radtke HB, Sebold CD, Allison C, Haidle JL

2014 eMedicine Pediatrics

15. Caf&#233 (Diagnosis) Au Lait Spots (Diagnosis)

: May 20, 2018 Author: William D James, MD; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Cafe Au Lait Spots Overview Background Café au lait spots, or café au lait (CAL) macules (CALMs), are hyperpigmented lesions that may vary in color from light brown to dark brown; [ ] this is reflected by the name of the condition, which means "coffee with milk." The borders may be smooth or irregular. The size and number of café au lait skin lesions widely vary (...) (3):477-83. . Alora MB, Arndt KA. Treatment of a cafe-au-lait macule with the erbium:YAG laser. J Am Acad Dermatol . 2001 Oct. 45(4):566-8. . Alster TS. Complete elimination of large café-au-lait birthmarks by the 510-nm pulsed dye laser. Plast Reconstr Surg . 1995 Dec. 96(7):1660-4. . Wang Y, Qian H, Lu Z. Treatment of café au lait macules in Chinese patients with a Q-switched 755-nm alexandrite laser. J Dermatolog Treat . 2012 Dec. 23(6):431-6. . Radtke HB, Sebold CD, Allison C, Haidle JL

2014 eMedicine Pediatrics

16. Caf&#233 (Follow-up) Au Lait Spots (Follow-up)

> Cafe Au Lait Spots Treatment & Management Updated: May 20, 2018 Author: William D James, MD; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Cafe Au Lait Spots Treatment Medical Care Café au lait macules (CALMs) do not require medical care. When café au lait spots are associated with neurofibromatosis (NF) or another underlying condition, monitoring of associated conditions is required. Next: Surgical Care Although treatment of these lesions is not necessary (...) for the treatment of café-au-lait macules. J Am Acad Dermatol . 2015 Sep. 73 (3):477-83. . Alora MB, Arndt KA. Treatment of a cafe-au-lait macule with the erbium:YAG laser. J Am Acad Dermatol . 2001 Oct. 45(4):566-8. . Alster TS. Complete elimination of large café-au-lait birthmarks by the 510-nm pulsed dye laser. Plast Reconstr Surg . 1995 Dec. 96(7):1660-4. . Wang Y, Qian H, Lu Z. Treatment of café au lait macules in Chinese patients with a Q-switched 755-nm alexandrite laser. J Dermatolog Treat . 2012 Dec

2014 eMedicine Pediatrics

17. Caf&#233 (Treatment) Au Lait Spots (Treatment)

> Cafe Au Lait Spots Treatment & Management Updated: May 20, 2018 Author: William D James, MD; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Cafe Au Lait Spots Treatment Medical Care Café au lait macules (CALMs) do not require medical care. When café au lait spots are associated with neurofibromatosis (NF) or another underlying condition, monitoring of associated conditions is required. Next: Surgical Care Although treatment of these lesions is not necessary (...) for the treatment of café-au-lait macules. J Am Acad Dermatol . 2015 Sep. 73 (3):477-83. . Alora MB, Arndt KA. Treatment of a cafe-au-lait macule with the erbium:YAG laser. J Am Acad Dermatol . 2001 Oct. 45(4):566-8. . Alster TS. Complete elimination of large café-au-lait birthmarks by the 510-nm pulsed dye laser. Plast Reconstr Surg . 1995 Dec. 96(7):1660-4. . Wang Y, Qian H, Lu Z. Treatment of café au lait macules in Chinese patients with a Q-switched 755-nm alexandrite laser. J Dermatolog Treat . 2012 Dec

2014 eMedicine Pediatrics

18. Phenotypic variability among café-au-lait macules in neurofibromatosis type 1. (PubMed)

Phenotypic variability among café-au-lait macules in neurofibromatosis type 1. Café-au-lait macules (CALMs) in neurofibromatosis type 1 (NF1) are an early and accessible phenotype in NF1, but have not been extensively studied.We sought to more fully characterize the phenotype of CALMs in patients with NF1.In all, 24 patients with a diagnosis of NF1 confirmed through clinical diagnosis or molecular genetic testing were recruited from patients seen in the genetics department at the University

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2010 Journal of American Academy of Dermatology

19. Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. (PubMed)

Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. To evaluate the predictive utility of the number and morphologic appearance of isolated café au lait macules (CALMs) in establishing the diagnosis of neurofibromatosis type 1 (NF1) in a cohort of children referred to an NF1 subspecialty clinic.Retrospective study of patients seen between the years 2004 and 2007.Tertiary care neurofibromatosis referral clinic at St Louis Children's

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2009 Archives of Dermatology

20. Tuberous sclerosis complex

, hypopigmented macules (ash leaf spots), facial angiofibromas, and ungual fibromas. The most often identified clinical presentations are epilepsy (infantile spasms), autism and cognitive impairment, and neonatal cardiac rhabdomyomas. Cardiac rhabdomyomas regress in early childhood and are generally asymptomatic, whereas renal angiomyolipomas and giant cell astrocytomas progress in adolescence and adulthood. The renal complications are second only to the central nervous system complications as a cause (...) ://www.ncbi.nlm.nih.gov/pubmed/11030407?tool=bestpractice.com Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88-100. http://www.ncbi.nlm.nih.gov/pubmed/17304050?tool=bestpractice.com History and exam FHx epilepsy cardiac rhabdomyoma (single or multiple) renal angiomyolipomas (AMLs) lymphangioleiomyomatosis of the lung cerebral subependymal calcified nodules giant cell astrocytoma

2018 BMJ Best Practice

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