The Experts below are selected from a list of 72 Experts worldwide ranked by ideXlab platform
Rudolf Happle - One of the best experts on this subject based on the ideXlab platform.
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the group of epidermal Nevus syndromes part i well defined phenotypes
Journal of The American Academy of Dermatology, 2010Co-Authors: Rudolf HappleAbstract:The epidermal Nevus syndromes represent a group of distinct disorders that can be distinguished by the type of associated epidermal Nevus and by the criterion of presence or absence of heritability. Well defined syndromes characterized by organoid epidermal nevi include Schimmelpenning syndrome, phacomatosis pigmentokeratotica, Nevus comedonicus syndrome, angora hair Nevus syndrome, and Becker Nevus syndrome. The molecular basis of these disorders has so far not been identified. By contrast, the group of syndromes characterized by keratinocytic nevi comprises three phenotypes with a known molecular etiology in the form of CHILD ( c ongenital h emidysplasia with i chthyosiform Nevus and l imb d efects) syndrome, type 2 segmental Cowden disease, and fibroblast growth factor receptor 3 epidermal Nevus syndrome (Garcia-Hafner-Happle syndrome), whereas Proteus syndrome is still of unknown origin. From this overview, it is clear that a specific type of these disorders cannot be classified by the name "epidermal Nevus syndrome" nor by the terms "organoid Nevus syndrome" or "keratinocytic Nevus syndrome." Learning objectives After completing this learning activity, participants should be able to distinguish nine different epidermal Nevus syndromes by their characteristic features, understand the practical significance of avoiding terms like "epidermal Nevus syndrome" or "keratinocytic Nevus syndrome" to define any specific entity within this group of disorders, and differentiate between nonhereditary traits and those bearing a genetic risk because of either Mendelian or non-Mendelian inheritance.
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the group of epidermal Nevus syndromes
Journal of The American Academy of Dermatology, 2010Co-Authors: Rudolf HappleAbstract:The epidermal Nevus syndromes represent a group of distinct disorders that can be distinguished by the type of associated epidermal Nevus and by the criterion of presence or absence of heritability. Well defined syndromes characterized by organoid epidermal nevi include Schimmelpenning syndrome, phacomatosis pigmentokeratotica, Nevus comedonicus syndrome, angora hair Nevus syndrome, and Becker Nevus syndrome. The molecular basis of these disorders has so far not been identified. By contrast, the group of syndromes characterized by keratinocytic nevi comprises three phenotypes with a known molecular etiology in the form of CHILD ( c ongenital h emidysplasia with i chthyosiform Nevus and l imb d efects) syndrome, type 2 segmental Cowden disease, and fibroblast growth factor receptor 3 epidermal Nevus syndrome (Garcia-Hafner-Happle syndrome), whereas Proteus syndrome is still of unknown origin. From this overview, it is clear that a specific type of these disorders cannot be classified by the name "epidermal Nevus syndrome" nor by the terms "organoid Nevus syndrome" or "keratinocytic Nevus syndrome." Learning objectives After completing this learning activity, participants should be able to distinguish nine different epidermal Nevus syndromes by their characteristic features, understand the practical significance of avoiding terms like "epidermal Nevus syndrome" or "keratinocytic Nevus syndrome" to define any specific entity within this group of disorders, and differentiate between nonhereditary traits and those bearing a genetic risk because of either Mendelian or non-Mendelian inheritance.
Andrew P. Sciallis - One of the best experts on this subject based on the ideXlab platform.
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Becker Nevus with an underlying desmoid tumor a case report and review including mayo clinic s experience
Archives of Dermatology, 2010Co-Authors: Gabriel F Sciallis, Andrew P. SciallisAbstract:Background Becker Nevus is a nevoid melanosis, referred to as Becker Nevus syndrome when it is associated with other anomalies. Our objectives were to report the occurrence of a Becker Nevus with an underlying desmoid soft-tissue tumor; to review Mayo Clinic's experience with Becker nevi, concentrating on Becker nevi associated with bone, vascular, neural, and other soft-tissue abnormalities; to inform physicians of the Becker Nevus syndrome; and finally to alert clinicians to evaluate a Becker Nevus with its associations in mind. Observations A 46-year-old woman had a Becker Nevus with an underlying desmoid-type fibromatosis (desmoid tumor) presenting clinically as a “painful dimple” within the Nevus. Review of medical records for 1997 through 2006 at Mayo Clinic, Rochester, Minnesota, yielded 52 patients with Becker nevi, 12 of whom had an associated bone, vascular, neural, congenital, or other soft-tissue abnormality, ranging from liposarcoma to an accessory areola. Conclusions We add to the literature a unique case of desmoid-type fibromatosis immediately beneath a Becker melanosis, which presented as a painful dimple. We hope to raise awareness that a Becker Nevus may be associated with other abnormalities, including an infiltrative soft-tissue tumor. We also emphasize the importance of follow-up, including inspection of not only the surface but also the deep tissues underlying the Becker Nevus.
Abdullah Alakeel - One of the best experts on this subject based on the ideXlab platform.
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hemimaxillary enlargement asymmetry of the face tooth abnormalities and skin findings hats syndrome a case report and review of the literature
Cureus, 2020Co-Authors: Abdullah AlakeelAbstract:Hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS) syndrome, a rare developmental disorder, involves the first and second branchial arches and is characterized by hemimaxillary enlargement, abnormal appearance of skin and teeth, and facial asymmetry. It is generally detected at birth or during early childhood and is associated with unilateral abnormalities of the face, including the bones, teeth, gums, and skin. Becker Nevus is the most common cutaneous manifestation of HATS syndrome. Although patients with HATS syndrome have been treated with various therapeutic regimens, no standard or definitive treatment regimen has been established. This study describes this rare condition in a 12-year-old girl.
Lawrence A Schachner - One of the best experts on this subject based on the ideXlab platform.
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hats syndrome hemimaxillary enlargement asymmetry of the face tooth abnormalities and skin findings
Cutis, 2014Co-Authors: Jasem M Alshaiji, Marc Z Handler, Ran Huo, Ann Freedman, Lawrence A SchachnerAbstract:Hemimaxillary enlargement, asymmetry of the face, tooth abnormalities, and skin findings (HATS syndrome) is a rare developmental disorder involving the first and second branchial arches. Physical manifestations may present at birth or during early childhood. Characteristic findings include unilateral abnormalities of the face involving the bones, teeth, gums, and skin. Among the characteristic cutaneous manifestations of HATS syndrome, Becker Nevus is the most common. A variety of modalities have been utilized in the treatment of HATS syndrome, but no standardized therapy has been established. We report a case of this rare condition in a 14-year-old adolescent boy.
Gabriel F Sciallis - One of the best experts on this subject based on the ideXlab platform.
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Becker Nevus with an underlying desmoid tumor a case report and review including mayo clinic s experience
Archives of Dermatology, 2010Co-Authors: Gabriel F Sciallis, Andrew P. SciallisAbstract:Background Becker Nevus is a nevoid melanosis, referred to as Becker Nevus syndrome when it is associated with other anomalies. Our objectives were to report the occurrence of a Becker Nevus with an underlying desmoid soft-tissue tumor; to review Mayo Clinic's experience with Becker nevi, concentrating on Becker nevi associated with bone, vascular, neural, and other soft-tissue abnormalities; to inform physicians of the Becker Nevus syndrome; and finally to alert clinicians to evaluate a Becker Nevus with its associations in mind. Observations A 46-year-old woman had a Becker Nevus with an underlying desmoid-type fibromatosis (desmoid tumor) presenting clinically as a “painful dimple” within the Nevus. Review of medical records for 1997 through 2006 at Mayo Clinic, Rochester, Minnesota, yielded 52 patients with Becker nevi, 12 of whom had an associated bone, vascular, neural, congenital, or other soft-tissue abnormality, ranging from liposarcoma to an accessory areola. Conclusions We add to the literature a unique case of desmoid-type fibromatosis immediately beneath a Becker melanosis, which presented as a painful dimple. We hope to raise awareness that a Becker Nevus may be associated with other abnormalities, including an infiltrative soft-tissue tumor. We also emphasize the importance of follow-up, including inspection of not only the surface but also the deep tissues underlying the Becker Nevus.