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761por Băicoianu-Nițescu, Livia-Cristiana, Gheorghe, Ana-Maria, Carsote, Mara, Dumitrascu, Mihai Cristian, Sandru, Florica“…Non-tumor aspects are confetti-like hypopigmentation, café-au-lait macules, and gingival papules. MEN1 gene, respective menin involvement has also been found in melanomas, but the association with MEN1 remains debatable. …”
Publicado 2022
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762“…The oropharyngeal and skin examination was negative for mucocutaneous hyperpigmented macules and the genetic analysis was negative for STK11 mutation. …”
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763“…Lentigines are defined as multiple small pigmented macules measuring up to one centimeter and surrounded by normal-appearing skin, commonly caused by genetic factors. …”
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764por Santoro, Claudia, Pacileo, Giuseppe, Limongelli, Giuseppe, Scianguetta, Saverio, Giugliano, Teresa, Piluso, Giulio, Ragione, Fulvio Della, Cirillo, Mario, Mirone, Giuseppe, Perrotta, Silverio“…CASE PRESENTATION: 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. …”
Publicado 2014
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765por Konstantinova, Veronika A, Olisova, Olga Yu, Gladko, Victor V, Burova, Ekaterina P“…RESULTS: Partial or complete skin re-pigmentation post-treatment was observed in vitiligo macules of all patients (100%). No significant side effects, or exacerbation of vitiligo were observed during or after treatment with NCTF 135 in the following 6 months (five patients) and 12 months (two patients). …”
Publicado 2019
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766por Das, Anirban, Bianchi, Vanessa, Edwards, Melissa, Varghese, Nobish, Sudhaman, Sumedha, Farah, Roula, Dvir, Rina, Reddy, Alyssa, Raskin, Salmo, Hansford, Jordan, Hamid, Syed Ahmer, Hsu, Saunders, Yen, Lee Yi, Quider, Abed Abu, Ghalibafian, Mithra, Koustenis, Elisabeth, Al-Battashi, Abeer, Mason, Gary, Lee, Joung, Bell, Danille, Stearns, Duncan, Ziegler, David, Zapotocky, Michal, Lasaletta, Alvaro, Kulkarni, Abhaya, Tsang, Derek S, Laperriere, Normand, Hawkins, Cynthia, Bouffet, Eric, Ramaswamy, Vijay, Tabori, Uri“…Embryonal tumors were observed at a young age (median: 7-years, IQR: 5;11), and all but one exhibited clinical cues (café-au-lait macules/ family history) of germline RRD. Medulloblastomas with RRD exhibited high-risk features, including anaplastic histology (50%), and SHH-subgroup with TP53-mutation (50%). …”
Publicado 2020
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767“…CASE PRESENTATION: A 48-year-old female with a red macule in the right axilla was presented to our clinic. …”
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768por Gunawan, Hendra, Kamilia, Atika, Menaldi, Sri Linuwih, Marissa, Melani, Prakoeswa, Cita Rosita Sigit, Alinda, Medhi Denisa, Widasmara, Dhelya, Basuki, Santosa, Anum, Qaira, Ariani, Tutty, Mamuaja, Enricco H, Mas Rusyati, Luh Made“…Most of the patients had anesthetic macules as the initial manifestation. The results showed 20 (15.15%) children had G2D. …”
Publicado 2021
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769por Xia, Jingyi, Jiang, Gaoli, Jin, Tingting, Shen, Quanli, Ma, Yangyang, Wang, Libo, Qian, Liling“…A 10-year-old male patient presented to the hospital with a complaint of progressive cough and chest pain. Violaceous macule and papules appeared a few days later and he was positive for anti-Ro-52 antibodies. …”
Publicado 2021
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770por Guerrini-Rousseau, Lea, Cabaret, Odile, Muleris, Martine, Vidaud, Dominique, Cotteret, Sophie, Rouleau, Etienne, de Beaumais, Tiphaine Adam, Varlet, Pascale, Morscher, Raphael, Abbou, Samuel, Dufour, Christelle, Brugieres, Laurence, Grill, Jacques“…Constitutional Mismatch Repair Deficiency (CMMRD) and Neurofibromatosis type 1 (NF1) are brain tumor predisposing syndromes associated with café-au-lait macules (CALM). Due to this overlap, establishing the differential diagnosis can be difficult, but remains crucial as treatments and surveillance protocols clearly differ for affected patient according to the underlying disease. …”
Publicado 2022
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771por Thomas, Ajay X., Link, Nichole, Robak, Laurie A., Demmler‐Harrison, Gail, Pao, Emily C., Squire, Audrey E., Michels, Savannah, Cohen, Julie S., Comi, Anne, Prontera, Paolo, Verrotti di Pianella, Alberto, Di Cara, Giuseppe, Garavelli, Livia, Caraffi, Stefano Giuseppe, Fusco, Carlo, Zuntini, Roberta, Parks, Kendall C., Sherr, Elliott H., Hashem, Mais O., Maddirevula, Sateesh, Alkuraya, Fowzan S., Contractar, Isphana A. F., Neil, Jennifer E., Walsh, Christopher A., Bellen, Hugo J., Chao, Hsiao‐Tuan, Clark, Robin D., Mirzaa, Ghayda M.“…Six probands had skin findings characteristic of ANKLE2 including hyper‐ and hypopigmented macules. Only one individual had scalp rugae. Functional characterization in Drosophila recapitulated the human MIC phenotype. …”
Publicado 2022
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772por Babamahmoodi, Farhang, Rezai, Mohammad Sadegh, Ahangarkani, Fatemeh, Mohammadi Kali, Ali, Alizadeh-Navaei, Reza, Alishahi, Abbas, Najafi, Narges, Haddadi, Azam, Davoudi, Alireza, Azargon, Leila, Daftarian, Zahra, Kordi, Shirafkan, Abbasi, Kiana“…The most common OC presentation was white or yellow macules on the buccal surface or the tongue. In (39.16%) of patients suffering from OC multiple Candida strains (with two or more Candida spp.) were identified. …”
Publicado 2022
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773por Gunasekara, Sonali Dinushika, Wickramasinghe, Nuwan Darshana, Agampodi, Suneth Buddhika, Fernando, Manoj Sanjeewa, Weerakoon, Kosala Gayan, Liyanage, Chandani, Dikomitis, Lisa, Agampodi, Thilini Chanchala“…Early clinical manifestations differed among the participants, while the majority misinterpreted them as a mosquito/ant bite, pimple, wart, eczema, macule, or worm infestation. Participants undertook different context-specific self-management actions to cure cutaneous leishmaniasis. …”
Publicado 2023
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774por Philpott, Charlotte, Tovell, Hannah, Frayling, Ian M., Cooper, David N., Upadhyaya, Meena“…NF1 exhibits variable clinical expression and is characterized by benign cutaneous lesions including neurofibromas and café-au-lait macules, as well as a predisposition to various types of malignancy, such as breast cancer and leukaemia. …”
Publicado 2017
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775por Ghosh, Sudip Kumar, Dutta, Abhijit, Sarkar, Sharmila, Nag, Shanka Subhra, Biswas, Surajit Kumar, Mandal, Prabhakar“…Freckle- and lentigines-like pigmentation within the hypopigmented macules was found in 25% of patients. Raspberry-like papillomas around mouth were documented in 6 (75%) patients. …”
Publicado 2017
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776por Roliński, Jacek, Grywalska, Ewelina, Pyzik, Aleksandra, Dzik, Michał, Opoka-Winiarska, Violetta, Surdacka, Agata, Maj, Maciej, Burdan, Franciszek, Pirożyński, Michał, Grabarczyk, Piotr, Starosławska, Elżbieta“…Cytokine assessment in peripheral blood revealed the lack of IFN-alpha synthesis. Disseminated maculate infiltrative areas in both lungs were observed on a computed tomography (CT) chest scan. …”
Publicado 2018
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777“…Physical examination showed 4 hypopigmented macules with diameters exceeding 5 mm. Initial magnetic resonance imaging of the brain revealed diffuse edema in the bilateral cerebral cortex, cortical tubers, and subependymal nodules. …”
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778por Orłowski, Grzegorz, Niedzielski, Przemysław, Merta, Dorota, Pokorny, Przemysław, Proch, Jędrzej“…Overall, this investigation strongly suggests that egg maculation plays a functional role in the physiological deactivation of trace elements by incorporating them into the less calcified external shell layer but without participating in micronutrient resorption. …”
Publicado 2020
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779por Michaeli, Orli, Ladany, Hagay, Maruvka, Yosef E, Erez, Ayelet, Shachar, Shay Ben, Izraeli, Shai, Goldberg, Yael, Toledano, Helen“…Constitutional mismatch repair deficiency (CMMRd) is caused by bi-allelic mutations in the MMR genes, associated with multiple café au lait macules (CAMs) and high incidence of pediatric cancer, including brain tumors. …”
Publicado 2021
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780por Di Lorenzo, Luigi, Inchingolo, Francesco, Pipoli, Antonella, Cassano, Filippo, Maggiore, Maria Elena, Inchingolo, Angelo Michele, Ceci, Sabino, Patano, Assunta, Malcangi, Giuseppina, Mancini, Antonio, Longo, Giosi, Attimonelli, Rossella, Maiorano, Eugenio, Laviano, Rocco, Manghisi, Nicola Mariano, Scarano, Antonio, Lorusso, Felice, Di Lorenzo, Antonio, Inchingolo, Alessio Danilo, Dipalma, Gianna“…Histological examination showed aggregates of pigment-laden macrophages forming perivascular macules or arranged in a radial pattern around a core of sclerohyalinosis. …”
Publicado 2022
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