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   Articles with "caf lait" as a keyword



Treatment With Selumetinib for Café-au-Lait Macules and Plexiform Neurofibroma in Pediatric Patients With Neurofibromatosis Type 1.

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recommendations! Published in 2024 at "JAMA dermatology"

DOI: 10.1001/jamadermatol.2023.5338

Abstract: This case report describes 4 patients with a rare autosomal dominant multisystem disorder resulting from NF1 variants that leads to café-au-lait macules and neurofibromas. read more here.

Keywords: selumetinib caf; caf lait; lait macules; treatment selumetinib ... See more keywords
Photo by atikahakhtar from unsplash

Novel use of non‐ablative fractional photothermolysis for café‐au‐lait macules in darker skin types

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recommendations! Published in 2017 at "Lasers in Surgery and Medicine"

DOI: 10.1002/lsm.22535

Abstract: The removal of café‐au‐lait macules (CALMs) in patients with darker skin phototypes poses a significant challenge due to limited available therapeutic options and increased risk of adverse effects, including permanent scarring and further dyspigmentation. Herein,… read more here.

Keywords: non ablative; lait macules; caf lait; novel use ... See more keywords

Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots

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recommendations! Published in 2018 at "Documenta Ophthalmologica"

DOI: 10.1007/s10633-018-9639-9

Abstract: PurposeTo describe the finding of circularly grouped hypomelanotic spots in the central macula of a patient with syndromic characteristics.MethodsCase report of a patient with albinotic spots grouped within the macula, café au lait spots, and… read more here.

Keywords: caf lait; lait spots; hemihypertrophy caf; albinotic spots ... See more keywords

A retrospective study of FQSRL and IPL in the treatment of Café-au-lait macule

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recommendations! Published in 2019 at "Journal of Dermatological Treatment"

DOI: 10.1080/09546634.2019.1687813

Abstract: Abstract Background The application of fractional Q-switched ruby laser (FQSRL) or intense pulsed light (IPL) on Café-au-lait macule (CALM) is rational and the data are lacking. Objective To evaluate the efficacy and safety of FQSRL… read more here.

Keywords: fqsrl ipl; treatment; caf lait; lait macule ... See more keywords
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Choroidal abnormalities in café‐au‐lait syndromes: a new differential diagnostic tool?

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recommendations! Published in 2017 at "Clinical Genetics"

DOI: 10.1111/cge.12873

Abstract: 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… read more here.

Keywords: abnormalities caf; lait syndromes; tool; caf lait ... See more keywords
Photo by atikahakhtar from unsplash

Familial gastrointestinal stromal tumors, lentigines, and café‐au‐lait macules associated with germline c‐kit mutation treated with imatinib

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recommendations! Published in 2017 at "International Journal of Dermatology"

DOI: 10.1111/ijd.13516

Abstract: 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… read more here.

Keywords: lentigines caf; caf lait; gastrointestinal stromal; stromal tumors ... See more keywords

Value of a café‐au‐lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto

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recommendations! Published in 2022 at "Pediatric Dermatology"

DOI: 10.1111/pde.14947

Abstract: Café‐au‐lait macules (CALMs) are a characteristic feature of neurofibromatosis type 1 (NF1), but also occur in other genetic disorders. Differential diagnosis of CALMs remains challenging and can be stressful for families. We sought to examine… read more here.

Keywords: lait macules; value caf; screening clinic; caf lait ... See more keywords

Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia

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recommendations! Published in 2017 at "Oncotarget"

DOI: 10.18632/oncotarget.13932

Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase… read more here.

Keywords: nf1 gene; family; tibial pseudarthrosis; lait spots ... See more keywords
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Legius Syndrome and its Relationship with Neurofibromatosis Type 1.

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recommendations! Published in 2020 at "Acta dermato-venereologica"

DOI: 10.2340/00015555-3429

Abstract: Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or… read more here.

Keywords: caf lait; legius syndrome; neurofibromatosis type; lait macules ... See more keywords

Reticulate acropigmentation of Kitamura with café-au-lait macules: a rare case report

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recommendations! Published in 2025 at "Frontiers in Medicine"

DOI: 10.3389/fmed.2025.1647451

Abstract: Reticulate acropigmentation of Kitamura (RAK) predominantly affects East Asian populations, though isolated cases and familial occurrences have been reported globally. Japanese researchers Kitamura et al. first described this condition in 1943. In 2013, pathogenic variants… read more here.

Keywords: lait macules; acropigmentation kitamura; caf lait; reticulate acropigmentation ... See more keywords