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  1. Article ; Online: JAAD Game Changers∗: Forehead location and large segmental pattern of facial port-wine stains predict risk of Sturge-Weber syndrome.

    Schaffer, Julie V

    Journal of the American Academy of Dermatology

    2022  Volume 88, Issue 5, Page(s) 1223

    MeSH term(s) Humans ; Port-Wine Stain ; Sturge-Weber Syndrome/complications ; Forehead ; Face ; Brain
    Language English
    Publishing date 2022-08-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 603641-7
    ISSN 1097-6787 ; 0190-9622
    ISSN (online) 1097-6787
    ISSN 0190-9622
    DOI 10.1016/j.jaad.2022.07.046
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Pigmentary mosaicism.

    Schaffer, Julie V

    Clinics in dermatology

    2022  Volume 40, Issue 4, Page(s) 322–338

    Abstract: Pigmentary mosaicism refers to patterned hypo- and/or hyperpigmentation that results from genetic heterogeneity of skin cells. The most common clinical patterns are streaks and swirls following Blaschko's lines in narrow or broad bands and a block-like ... ...

    Abstract Pigmentary mosaicism refers to patterned hypo- and/or hyperpigmentation that results from genetic heterogeneity of skin cells. The most common clinical patterns are streaks and swirls following Blaschko's lines in narrow or broad bands and a block-like distribution. This contribution provides an update on the diverse genetic etiologies, cutaneous findings, potential associated extracutaneous abnormalities, and management of various forms of pigmentary mosaicism. Current terminology, the recent reappraisal of the classic patterns based on scientific advances, and distinct clinicogenetic entities are highlighted. A practical approach to the diagnosis and evaluation of patients with pigmentary mosaicism is provided, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology.
    MeSH term(s) Genetic Testing ; Humans ; Hyperpigmentation/diagnosis ; Hyperpigmentation/genetics ; Mosaicism ; Skin
    Language English
    Publishing date 2022-03-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1064149-x
    ISSN 1879-1131 ; 0738-081X
    ISSN (online) 1879-1131
    ISSN 0738-081X
    DOI 10.1016/j.clindermatol.2022.02.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Pediatric Game Changers∗: Serious infection risk in children with psoriasis on systemic treatment: A propensity score-matched population-based study.

    Schaffer, Julie V

    Journal of the American Academy of Dermatology

    2021  Volume 84, Issue 6, Page(s) 1797

    MeSH term(s) Child ; Disease Susceptibility ; Humans ; Infections ; Propensity Score ; Psoriasis/drug therapy ; Psoriasis/epidemiology
    Language English
    Publishing date 2021-02-06
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 603641-7
    ISSN 1097-6787 ; 0190-9622
    ISSN (online) 1097-6787
    ISSN 0190-9622
    DOI 10.1016/j.jaad.2021.02.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Pediatric Game Changers∗: Topical calcineurin inhibitors for pediatric periorificial dermatitis.

    Schaffer, Julie V

    Journal of the American Academy of Dermatology

    2021  Volume 84, Issue 6, Page(s) 1798

    MeSH term(s) Calcineurin Inhibitors ; Child ; Dermatitis, Atopic/drug therapy ; Humans ; Tacrolimus/adverse effects
    Chemical Substances Calcineurin Inhibitors ; Tacrolimus (WM0HAQ4WNM)
    Language English
    Publishing date 2021-02-06
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 603641-7
    ISSN 1097-6787 ; 0190-9622
    ISSN (online) 1097-6787
    ISSN 0190-9622
    DOI 10.1016/j.jaad.2021.02.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Pediatric Mastocytosis: Recognition and Management.

    Schaffer, Julie V

    American journal of clinical dermatology

    2021  Volume 22, Issue 2, Page(s) 205–220

    Abstract: Mastocytosis is a heterogeneous group of disorders characterized by the accumulation of clonal mast cells in organs such as the skin and bone marrow. In contrast to adults, most affected children have only cutaneous involvement. This article reviews the ... ...

    Abstract Mastocytosis is a heterogeneous group of disorders characterized by the accumulation of clonal mast cells in organs such as the skin and bone marrow. In contrast to adults, most affected children have only cutaneous involvement. This article reviews the molecular pathogenesis, skin findings, mast cell mediator-related symptoms, evaluation, and management of childhood-onset mastocytosis, noting differences from adult-onset disease. Current classification of cutaneous mastocytosis and the natural histories of different variants in pediatric patients are highlighted, with a focus on clinical manifestations with prognostic implications. A practical algorithm is provided to guide clinical assessment, laboratory and other investigations, and longitudinal monitoring, including recognition of hepatosplenomegaly as a marker of systemic disease and utilization of allele-specific quantitative PCR (ASqPCR) to detect KIT mutations in the peripheral blood. Updated information and consensus-based recommendations regarding possible triggers of mast-cell degranulation (e.g., physical, medications) are discussed, with an emphasis on patient-specific factors and avoiding excessive parental concern. Lastly, an individualized, stepwise approach to treatment of symptoms, skin-directed therapy, and potential use of kinase inhibitors for severe systemic disease is outlined.
    MeSH term(s) Adult ; Age Factors ; Biomarkers/analysis ; Cell Degranulation ; Child ; Consensus ; Critical Pathways/standards ; Dermatology/methods ; Dermatology/standards ; Disease Progression ; Humans ; Mast Cells/pathology ; Mastocytosis, Cutaneous/diagnosis ; Mastocytosis, Cutaneous/genetics ; Mastocytosis, Cutaneous/pathology ; Mastocytosis, Cutaneous/therapy ; Mutation ; Practice Guidelines as Topic ; Prognosis ; Protein Kinase Inhibitors/therapeutic use ; Severity of Illness Index ; Skin/pathology ; Treatment Outcome
    Chemical Substances Biomarkers ; Protein Kinase Inhibitors
    Language English
    Publishing date 2021-01-22
    Publishing country New Zealand
    Document type Journal Article ; Review
    ZDB-ID 1502476-3
    ISSN 1179-1888 ; 1175-0561
    ISSN (online) 1179-1888
    ISSN 1175-0561
    DOI 10.1007/s40257-020-00581-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Practice and Educational Gaps in Genodermatoses.

    Schaffer, Julie V

    Dermatologic clinics

    2016  Volume 34, Issue 3, Page(s) 303–310

    Abstract: In the past 2 decades, there has been enormous progress in determining the molecular bases of genodermatoses. This progress has expanded the interface between dermatology and genetics. Integration of clinical and molecular data has simplified disease ... ...

    Abstract In the past 2 decades, there has been enormous progress in determining the molecular bases of genodermatoses. This progress has expanded the interface between dermatology and genetics. Integration of clinical and molecular data has simplified disease classification and highlighted relationships among conditions. However, the recent explosion in genetic knowledge has not yet been fully incorporated into clinical dermatology practice or dermatology resident education. This article highlights strategies to overcome barriers and correct practice and educational gaps, enhancing the ability of dermatologists to diagnose, counsel, evaluate, and treat patients and families affected by genodermatoses.
    MeSH term(s) Access to Information ; Curriculum ; Dermatology/education ; Dermatology/organization & administration ; Dermatology/standards ; Genetic Counseling ; Genetic Testing ; Humans ; Internship and Residency/standards ; Skin Diseases, Genetic/diagnosis ; Skin Diseases, Genetic/therapy ; Terminology as Topic ; Time Factors
    Language English
    Publishing date 2016-07
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 82798-8
    ISSN 1558-0520 ; 0733-8635
    ISSN (online) 1558-0520
    ISSN 0733-8635
    DOI 10.1016/j.det.2016.02.007
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Update on melanocytic nevi in children.

    Schaffer, Julie V

    Clinics in dermatology

    2015  Volume 33, Issue 3, Page(s) 368–386

    Abstract: A new or changing melanocytic nevus in a child or adolescent often leads to concern in parents and physicians. To avoid undue alarm and unnecessary procedures, dermatologists should be aware of the natural history and clinical spectrum of nevi in ... ...

    Abstract A new or changing melanocytic nevus in a child or adolescent often leads to concern in parents and physicians. To avoid undue alarm and unnecessary procedures, dermatologists should be aware of the natural history and clinical spectrum of nevi in pediatric patients, as well as findings that are potentially worrisome in this age group. This review provides an update on melanocytic nevi in children, focusing on their dynamic evolution over time, molecular insights into nevogenesis, and phenotypic markers for increased risk of melanoma in adolescence and adulthood. Special considerations for Spitz nevi and nevi located in particular sites (eg, scalp, acral, genital) are highlighted. Current understanding of the risks associated with congenital melanocytic nevi of different sizes and strategies for the management of children with numerous acquired nevi, Spitz nevi, and congenital nevi are also discussed.
    MeSH term(s) Adolescent ; Child ; Humans ; Nevus, Pigmented/congenital ; Nevus, Pigmented/pathology ; Nevus, Pigmented/therapy ; Skin Neoplasms/congenital ; Skin Neoplasms/pathology ; Skin Neoplasms/therapy
    Language English
    Publishing date 2015-05
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1064149-x
    ISSN 1879-1131 ; 0738-081X
    ISSN (online) 1879-1131
    ISSN 0738-081X
    DOI 10.1016/j.clindermatol.2014.12.015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Facial involvement in genodermatoses.

    Schaffer, Julie V

    Clinics in dermatology

    2014  Volume 32, Issue 6, Page(s) 772–783

    Abstract: Facial involvement represents a characteristic feature of a wide range of genodermatoses. Specific facial findings often help point to the correct diagnosis, which improves counseling and management. In particular, this can facilitate the identification ... ...

    Abstract Facial involvement represents a characteristic feature of a wide range of genodermatoses. Specific facial findings often help point to the correct diagnosis, which improves counseling and management. In particular, this can facilitate the identification and treatment of associated extracutaneous disease. The highly visible nature of facial lesions in genodermatoses and facial birthmarks can result in stigmatization and frequently leads to particular concern in patients and their family members. It is therefore critical for dermatologists to be aware of the broad spectrum of facial manifestations in genetic skin disease, especially when these findings have important implications with regard to monitoring and treatment. In this contribution, facial involvement in genodermatoses is divided into five morphologic categories based on the most prominent feature: Papules, scaling, photosensitivity/findings associated with aging (eg, telangiectasias, atrophy, lentigines), blisters/erosions, and birthmarks. Hopefully, this will provide a practical and clinically useful approach to a large and diverse assortment of genetic skin conditions.
    MeSH term(s) Facial Dermatoses/genetics ; Facial Dermatoses/physiopathology ; Facial Dermatoses/therapy ; Female ; Genetic Counseling ; Genetic Predisposition to Disease/epidemiology ; Humans ; Incidence ; Male ; Prognosis ; Risk Assessment ; Severity of Illness Index ; Skin Diseases, Genetic/diagnosis ; Skin Diseases, Genetic/epidemiology ; Skin Diseases, Genetic/therapy ; Treatment Outcome
    Language English
    Publishing date 2014-11
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1064149-x
    ISSN 1879-1131 ; 0738-081X
    ISSN (online) 1879-1131
    ISSN 0738-081X
    DOI 10.1016/j.clindermatol.2014.02.017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: A spotlight on the new JAAD pediatric dermatology collection.

    Cotton, Colleen H / Elston, Dirk M / Grant-Kels, Jane M / Kamath, Sonia / Schaffer, Julie V

    Journal of the American Academy of Dermatology

    2021  Volume 85, Issue 4, Page(s) 833–834

    Language English
    Publishing date 2021-06-24
    Publishing country United States
    Document type Editorial
    ZDB-ID 603641-7
    ISSN 1097-6787 ; 0190-9622
    ISSN (online) 1097-6787
    ISSN 0190-9622
    DOI 10.1016/j.jaad.2021.05.035
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Top-accessed article: skin markers of occult spinal dysraphism in children.

    Schaffer, Julie V

    Archives of dermatology

    2012  Volume 148, Issue 8, Page(s) 934

    Language English
    Publishing date 2012-08-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 212139-6
    ISSN 1538-3652 ; 0003-987X
    ISSN (online) 1538-3652
    ISSN 0003-987X
    DOI 10.1001/archdermatol.2012.728
    Database MEDical Literature Analysis and Retrieval System OnLINE

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