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  1. Article ; Online: Subacute Multifocal Abscesses Related to a Mycobacterium marinum Infection in a Child.

    Briand, Clémence / Gaudart, Alice / Demonchy, Diane / Hubiche, Thomas

    The Journal of pediatrics

    2020  Volume 230, Page(s) 255–256

    MeSH term(s) Abscess/microbiology ; Abscess/pathology ; Child ; Hand ; Humans ; Male ; Mycobacterium Infections, Nontuberculous/complications
    Language English
    Publishing date 2020-12-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2020.11.066
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  2. Article ; Online: Agminated Spitz naevus with an activating HRAS Q61R mutation.

    Kervarrec, Thibault / Briand, Clémence / Pissaloux, Daniel / Tirode, Franck / Abasq-Thomas, Claire / Fraitag, Sylvie / de la Fouchardière, Arnaud

    Pathology

    2021  Volume 54, Issue 3, Page(s) 374–376

    MeSH term(s) Humans ; Mutation ; Nevus, Epithelioid and Spindle Cell/genetics ; Proto-Oncogene Proteins p21(ras)/genetics ; Skin Neoplasms/genetics
    Chemical Substances HRAS protein, human (EC 3.6.5.2) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
    Language English
    Publishing date 2021-08-16
    Publishing country England
    Document type Case Reports ; Letter
    ZDB-ID 7085-3
    ISSN 1465-3931 ; 0031-3025
    ISSN (online) 1465-3931
    ISSN 0031-3025
    DOI 10.1016/j.pathol.2021.04.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  3. Article: Case Report, Practices Survey and Literature Review of an Under-Recognized Pediatric Vascular Disorder: The BASCULE Syndrome.

    Baurens, Natacha / Briand, Clémence / Giovannini-Chami, Lisa / De Guillebon De Resnes, Jean-Marie / Hubiche, Thomas / Chiaverini, Christine / Giordana, Pascal / Leftheriotis, Georges / Bernardor, Julie

    Frontiers in pediatrics

    2022  Volume 10, Page(s) 849914

    Abstract: Introduction: Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome is an underreported pediatric vascular disorder from the group of acrosyndromes. In children, these include paroxysmal acrosyndromes (Raynaud's phenomenon and ... ...

    Abstract Introduction: Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome is an underreported pediatric vascular disorder from the group of acrosyndromes. In children, these include paroxysmal acrosyndromes (Raynaud's phenomenon and chilblain-like lesions), permanent acrosyndromes (acrocyanosis), and transient acrosyndromes, in which their pathogeneses are associated with virus infections, Epstein-Barr virus, and, more recently, SARS-CoV-2, respectively.
    Methods: We reported a case of BASCULE syndrome associated with postural orthostatic tachycardia syndrome (POTS) and provided a narrative review of case reports describing the BASCULE syndrome in children. Moreover, we presented the results of a prospective practice survey that we performed in the French medical community.
    Results: A 14-years-old boy reported pruritic erythrocyanic lesions on the lower limbs, which occurred whenever he was in a standing position and fully resolved when he laid down. He reported asthenia and cramps. He presented a typical BASCULE syndrome associated with POTS confirmed by a tilt-test. Physical and vascular examinations were within the normal range. We identified 12 case reports, describing 21 pediatric cases since 2016. Most patients were adolescents between 12 and 19 years of age or were newborns. Furthermore, 20% of cases in the literature have presented POTS or orthostatic intolerance. Our survey among 95 French physicians confirmed that BASCULE syndrome is an underdiagnosed and under recognized disease in the general pediatric practice, at least in France. Among these physicians, 65% had already encountered patients with similar symptoms, but only 30% declared that they had knowledge of the BASCULE syndrome.
    Conclusion: The under-recognition of the clinical manifestations leads the patients to consult emergency rooms, with multiple unnecessary investigations performed. Therefore, we suggest that the diagnosis of BASCULE syndrome is based on clinical observations, without the need for laboratory tests, to avoid unnecessary health costs. We suggest physicians to perform a tilt-test when POTS is suspected.
    Language English
    Publishing date 2022-04-07
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2022.849914
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.

    Briand, Clémence / Galmiche-Rolland, Louise / Vabres, Pierre / Couloigner, Vincent / Audebert, Severine / Misery, Laurent / Abasq-Thomas, Claire

    Pediatric dermatology

    2020  Volume 37, Issue 6, Page(s) 1128–1130

    Abstract: We report the case of a 5-year-old girl with congenital right-sided facial hemihypertrophy and right hemi-macroglossia with lingual mucosal neuromas. The segmental presentation of findings suggested the diagnosis of congenital infiltrating lipomatosis of ...

    Abstract We report the case of a 5-year-old girl with congenital right-sided facial hemihypertrophy and right hemi-macroglossia with lingual mucosal neuromas. The segmental presentation of findings suggested the diagnosis of congenital infiltrating lipomatosis of the face (CILF), which belongs within the PIK3CA-related overgrowth spectrum (PROS). This was confirmed by genetic analysis showing a mosaic mutation in PIK3CA H1047R. CILF/PROS should be considered in the differential diagnosis of mucosal neuromas.
    MeSH term(s) Child, Preschool ; Class I Phosphatidylinositol 3-Kinases/genetics ; Face ; Facial Asymmetry ; Female ; Humans ; Lipomatosis ; Mutation ; Neuroma
    Chemical Substances Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) ; PIK3CA protein, human (EC 2.7.1.137)
    Language English
    Publishing date 2020-08-08
    Publishing country United States
    Document type Case Reports
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.14302
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Characteristics of Pruritus in Bullous Pemphigoid and Impact on Quality of Life: A Prospective Cohort Study.

    Briand, Clémence / Gourier, Greta / Poizeau, Florence / Jelti, Lamia / Bachelerie, Marie / Quéreux, Gaëlle / Jeudy, Géraldine / Acquitter, Marie / Ingen-Housz-Oro, Saskia / Caux, Frédéric / Prost, Catherine / Darrigade, Anne-Sophie / Heron Mermin, Diane / Mahé, Emmanuel / Picart Dahan, Catherine / Richard, Marie-Aleth / Clerc, Caroline Jade / Salle De Chou, Camille / Plée, Julie /
    Abasq-Thomas, Claire / Misery, Laurent / Brenaut, Emilie

    Acta dermato-venereologica

    2020  Volume 100, Issue 18, Page(s) adv00320

    Abstract: Pruritus is a common symptom of bullous pemphigoid (BP), but has been poorly studied. The aim of this study was to analyse the characteristics of pruritus in patients with BP and its impact on their quality of life. A multicentre prospective ... ...

    Abstract Pruritus is a common symptom of bullous pemphigoid (BP), but has been poorly studied. The aim of this study was to analyse the characteristics of pruritus in patients with BP and its impact on their quality of life. A multicentre prospective observational study (in 15 French hospitals) was performed. A total of 60 patients were included, with a mean age of 77.4 years. Pruritus occurred daily in 85% of patients, with a mean pruritus intensity of 5.2/10. Tingling sensations were present in 72.4% of patients and burning sensations in 68.9%. Pruritus was exacerbated by stress, fatigue and xerosis. The mean ItchyQol score was 56.2/110 and the mean 5-D Itch Scale score was 16.5/25. The severity of pruritus was not related to age, sex, BP activity score, eosinophilia, or anti-BP230 and anti-BP180 autoantibodies. This study revealed that pruritus in BP is poorly tolerated and is an important cause of impaired quality of life.
    MeSH term(s) Aged ; Autoantibodies ; Autoantigens ; Dystonin ; Humans ; Non-Fibrillar Collagens ; Pemphigoid, Bullous/diagnosis ; Pemphigoid, Bullous/epidemiology ; Prospective Studies ; Pruritus/diagnosis ; Pruritus/epidemiology ; Pruritus/etiology ; Quality of Life
    Chemical Substances Autoantibodies ; Autoantigens ; Dystonin ; Non-Fibrillar Collagens
    Language English
    Publishing date 2020-11-12
    Publishing country Sweden
    Document type Journal Article ; Observational Study
    ZDB-ID 80007-7
    ISSN 1651-2057 ; 0001-5555
    ISSN (online) 1651-2057
    ISSN 0001-5555
    DOI 10.2340/00015555-3683
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ui VI Zs.101: Show issues Location:
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