We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 () due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and . However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for . Besides, it may be suitable that these individuals with piebaldism showing -like clinical phenotypes should be further tested for and gene mutations.
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| http://dx.doi.org/10.5021/ad.2019.31.5.567 | DOI Listing |
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Systematic review of topical, laser, and oral treatments in acanthosis nigricans clinical trials.
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Dermatology Service, Veterans Affairs New York Harbor Healthcare System - Brooklyn Campus, Brooklyn, NY, USA.
Article Synopsis
- Acanthosis nigricans (AN) is a skin condition affecting about 19.4% of people in the U.S., characterized by dark, velvety patches mainly in skin folds, which can negatively impact mental health, particularly among individuals with skin of color.
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Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report.
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October 2023
Pediatrics, Hospital Professor Doutor Fernando Fonseca, Lisbon, PRT.
Legius syndrome (LS) is a rare and underrecognized disorder that is often misdiagnosed as neurofibromatosis type 1 (NF1). It is characterized by café-au-lait macules without the tumoral manifestations of NF1. We report the case of an 11-year-old patient with multiple café-au-lait macules and intertriginous freckling who was admitted for bloody stools, joint pain, and weight loss.
View Article and Find Full Text PDF[MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES].
Harefuah
June 2023
Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
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- - Piebaldism is a genetic skin disorder marked by stable white patches of skin and localized white hair, primarily affecting areas like the forehead, chest, abdomen, and limbs.
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T follicular helper phenotype mycosis fungoides associated with acanthosis nigricans.
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May 2023
Unit of Dermatology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
The association between acanthosis nigricans (AN) and mycosis fungoides (MF) has rarely been described, but it is known that MF may appear as AN-like vegetating and papillomatous plaques in skin folds, or may be associated with paraneoplastic AN. There have also been recent descriptions of a form of "intertriginous MF" that is characterized by skin fold involvement and the expression of T follicular helper (TFH) markers, and that often has an aggressive course. We describe the case of a 48-year-old man affected by MF associated with AN, whose lesions were characterized by a TFH immunophenotype and the expression of the GATA-3 nuclear master regulator that may be related to a TFH-2 subpopulation or possible disease progression.
View Article and Find Full Text PDFAcanthosis Nigricans: An Updated Review.
Curr Pediatr Rev
January 2023
Department of Paediatrics, The Chinese University of Hong Kong, and Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong, China.
Background: Early recognition of acanthosis nigricans is important because acanthosis nigricans can be a cutaneous manifestation of a variety of systemic disorders and, rarely, as a sign of internal malignancy.
Objective: The purpose of this article is to familiarize pediatricians with the clinical manifestations, evaluation, diagnosis, and management of acanthosis nigricans.
Methods: A search was conducted in November 2021in PubMed Clinical Queries using the key term "acanthosis nigricans".
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