The Experts below are selected from a list of 819 Experts worldwide ranked by ideXlab platform

Paola Grammatico - One of the best experts on this subject based on the ideXlab platform.

  • Monozygotic Twin Discordance for Phacomatosis Cesioflammea Further Supports the Post-Zygotic Mutation Hypothesis
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Marco Castori, Stefano Sarazani, Francesco Binni, Francesca Romana Pezzella, Giovanni Cruciani, Paola Grammatico
    Abstract:

    Phacomatosis pigmentovascularis (PPV) is a group of sporadic skin disorders combining widespread cutaneous capillary malformations and pigmented nevi. Etiopathogenesis of the various forms of PPV is unknown, although a non-allelic twin Spotting has been proposed as the most likely underlying mechanism. We report on the second instance of monozygotic twin discordance for PPV. Identical twins were observed shortly after birth, one affected by PPV and the other healthy, except for a standard Mongolian Spot. Membrane examination was compatible with a monochorionic diamniotic pregnancy, and microsatellite analysis demonstrated monozygosity. This report confirms that PPV likely originates from a post-zygotic mutation rising shortly after conception and affecting different cell lineages. Speculations about mechanisms linked to phenotypic discrepancies among identical twins were also put forward.

  • Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis
    'Wiley', 2011
    Co-Authors: Marco Castori, Stefano Sarazani, Francesco Binni, Francesca Romana Pezzella, Giovanni Cruciani, Paola Grammatico
    Abstract:

    Phacomatosis pigmentovascularis (PPV) is a group of sporadic skin disorders combining widespread cutaneous capillary malformations and pigmented nevi. Etiopathogenesis of the various forms of PPV is unknown, although a non-allelic twin Spotting has been proposed as the most likely underlying mechanism. We report on the second instance of monozygotic twin discordance for PPV. Identical twins were observed shortly after birth, one affected by PPV and the other healthy, except for a standard Mongolian Spot. Membrane examination was compatible with a monochorionic diamniotic pregnancy, and microsatellite analysis demonstrated monozygosity. This report confirms that PPV likely originates from a post-zygotic mutation rising shortly after conception and affecting different cell lineages. Speculations about mechanisms linked to phenotypic discrepancies among identical twins were also put forward. (C) 2011 Wiley-Liss, Inc

  • Phacomatosis cesioflammea with unilateral lipohypoplasia.
    American journal of medical genetics. Part A, 2008
    Co-Authors: Marco Castori, Corrado Angelo, Rosanna Rinaldi, Paola Grammatico, Giovanna Zambruno, Rudolf Happle
    Abstract:

    Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian Spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin Spotting. We report on a 28-year-old woman with aberrant Mongolian Spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.

  • Phacomatosis cesioflammea with unilateral lipohypoplasia.
    American Journal of Medical Genetics Part A, 2008
    Co-Authors: Marco Castori, Corrado Angelo, Rosanna Rinaldi, Paola Grammatico, Giovanna Zambruno, Rudolf Happle
    Abstract:

    Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian Spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin Spotting. We report on a 28-year-old woman with aberrant Mongolian Spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event. © 2008 Wiley-Liss, Inc.

Marco Castori - One of the best experts on this subject based on the ideXlab platform.

  • Monozygotic Twin Discordance for Phacomatosis Cesioflammea Further Supports the Post-Zygotic Mutation Hypothesis
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Marco Castori, Stefano Sarazani, Francesco Binni, Francesca Romana Pezzella, Giovanni Cruciani, Paola Grammatico
    Abstract:

    Phacomatosis pigmentovascularis (PPV) is a group of sporadic skin disorders combining widespread cutaneous capillary malformations and pigmented nevi. Etiopathogenesis of the various forms of PPV is unknown, although a non-allelic twin Spotting has been proposed as the most likely underlying mechanism. We report on the second instance of monozygotic twin discordance for PPV. Identical twins were observed shortly after birth, one affected by PPV and the other healthy, except for a standard Mongolian Spot. Membrane examination was compatible with a monochorionic diamniotic pregnancy, and microsatellite analysis demonstrated monozygosity. This report confirms that PPV likely originates from a post-zygotic mutation rising shortly after conception and affecting different cell lineages. Speculations about mechanisms linked to phenotypic discrepancies among identical twins were also put forward.

  • Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis
    'Wiley', 2011
    Co-Authors: Marco Castori, Stefano Sarazani, Francesco Binni, Francesca Romana Pezzella, Giovanni Cruciani, Paola Grammatico
    Abstract:

    Phacomatosis pigmentovascularis (PPV) is a group of sporadic skin disorders combining widespread cutaneous capillary malformations and pigmented nevi. Etiopathogenesis of the various forms of PPV is unknown, although a non-allelic twin Spotting has been proposed as the most likely underlying mechanism. We report on the second instance of monozygotic twin discordance for PPV. Identical twins were observed shortly after birth, one affected by PPV and the other healthy, except for a standard Mongolian Spot. Membrane examination was compatible with a monochorionic diamniotic pregnancy, and microsatellite analysis demonstrated monozygosity. This report confirms that PPV likely originates from a post-zygotic mutation rising shortly after conception and affecting different cell lineages. Speculations about mechanisms linked to phenotypic discrepancies among identical twins were also put forward. (C) 2011 Wiley-Liss, Inc

  • Phacomatosis cesioflammea with unilateral lipohypoplasia.
    American journal of medical genetics. Part A, 2008
    Co-Authors: Marco Castori, Corrado Angelo, Rosanna Rinaldi, Paola Grammatico, Giovanna Zambruno, Rudolf Happle
    Abstract:

    Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian Spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin Spotting. We report on a 28-year-old woman with aberrant Mongolian Spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.

  • Phacomatosis cesioflammea with unilateral lipohypoplasia.
    American Journal of Medical Genetics Part A, 2008
    Co-Authors: Marco Castori, Corrado Angelo, Rosanna Rinaldi, Paola Grammatico, Giovanna Zambruno, Rudolf Happle
    Abstract:

    Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian Spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin Spotting. We report on a 28-year-old woman with aberrant Mongolian Spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event. © 2008 Wiley-Liss, Inc.

Rudolf Happle - One of the best experts on this subject based on the ideXlab platform.

  • Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis
    European Journal of Dermatology, 2012
    Co-Authors: Andreas W Arnold, Marion U. Kleine, Rudolf Happle
    Abstract:

    Phacomatosis pigmentovascularis (PPV) represents a group of different types of didymosis (twin Spotting) characterized by the coexistence of a large pigmentary nevus such as a Mongolian Spot, cafe-au-lait macule or macular nevus spilus, and an extensive telangiectatic nevus, such as nevus flammeus or nevus roseus. We describe a third case of phacomatosis melanorosea and discuss the denotation of this neologism.

  • Phacomatosis cesioflammea with unilateral lipohypoplasia.
    American journal of medical genetics. Part A, 2008
    Co-Authors: Marco Castori, Corrado Angelo, Rosanna Rinaldi, Paola Grammatico, Giovanna Zambruno, Rudolf Happle
    Abstract:

    Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian Spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin Spotting. We report on a 28-year-old woman with aberrant Mongolian Spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event.

  • Phacomatosis cesioflammea with unilateral lipohypoplasia.
    American Journal of Medical Genetics Part A, 2008
    Co-Authors: Marco Castori, Corrado Angelo, Rosanna Rinaldi, Paola Grammatico, Giovanna Zambruno, Rudolf Happle
    Abstract:

    Phacomatosis cesioflammea is characterized by the co-existence of a large nevus cesius (i.e., aberrant Mongolian Spot, or nevus fuscocoeruleus) and an extensive nevus flammeus (i.e., port-wine stain). This sporadic genetic skin disorder represents a particular type of phacomatosis pigmentovascularis, a group of disorders that may reflect twin Spotting. We report on a 28-year-old woman with aberrant Mongolian Spots, bilateral melanosis bulbi, and systematized nevus flammeus partly intermingled with nevus anemicus. Moreover, pronounced lipohypoplasia of the right buttock and thigh as well as hypoplasia of the right breast are present. This anomaly of fatty tissue has not previously been reported in phacomatosis cesioflammea and further expands the clinical spectrum of this mosaic disorder. The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event. © 2008 Wiley-Liss, Inc.

George T. Reizner - One of the best experts on this subject based on the ideXlab platform.

  • Acquired Pseudo—Mongolian Spot Associated With Minocycline Therapy
    Archives of dermatology, 1992
    Co-Authors: Hal B. Ridgway, George T. Reizner
    Abstract:

    To the Editor.— Minocycline is a common and effective treatment for acne vulgaris, with relatively few side effects. Minocycline has been associated with pigmentary changes of the skin, nails, teeth, oral mucosa, sclera, and certain internal organs. We describe a patient who, while receiving minocycline, developed a blue-gray patch resembling a Mongolian Spot on the lower lumbar region of his back. The patient's unusual presentation differs from that reported in other cases. Report of a Case.— A 31-year-old man receiving minocycline (100 mg twice daily) was seen in follow-up of moderately severe acne. His nearly 5-year accumulated dose was 365 g. Recently, the patient discontinued minocycline therapy on the advice of his dentist, who noted tooth discoloration. He was also concerned about a "dark area" on his lower back. His physical examination revealed moderately severe, scarring nodulocystic acne, without clinical pigmentary changes in the scars. Findings from his oral examination

  • acquired pseudo Mongolian Spot associated with minocycline therapy
    Archives of Dermatology, 1992
    Co-Authors: Hal B. Ridgway, George T. Reizner
    Abstract:

    To the Editor.— Minocycline is a common and effective treatment for acne vulgaris, with relatively few side effects. Minocycline has been associated with pigmentary changes of the skin, nails, teeth, oral mucosa, sclera, and certain internal organs. We describe a patient who, while receiving minocycline, developed a blue-gray patch resembling a Mongolian Spot on the lower lumbar region of his back. The patient's unusual presentation differs from that reported in other cases. Report of a Case.— A 31-year-old man receiving minocycline (100 mg twice daily) was seen in follow-up of moderately severe acne. His nearly 5-year accumulated dose was 365 g. Recently, the patient discontinued minocycline therapy on the advice of his dentist, who noted tooth discoloration. He was also concerned about a "dark area" on his lower back. His physical examination revealed moderately severe, scarring nodulocystic acne, without clinical pigmentary changes in the scars. Findings from his oral examination

Francesca Romana Pezzella - One of the best experts on this subject based on the ideXlab platform.

  • Monozygotic Twin Discordance for Phacomatosis Cesioflammea Further Supports the Post-Zygotic Mutation Hypothesis
    American Journal of Medical Genetics Part A, 2011
    Co-Authors: Marco Castori, Stefano Sarazani, Francesco Binni, Francesca Romana Pezzella, Giovanni Cruciani, Paola Grammatico
    Abstract:

    Phacomatosis pigmentovascularis (PPV) is a group of sporadic skin disorders combining widespread cutaneous capillary malformations and pigmented nevi. Etiopathogenesis of the various forms of PPV is unknown, although a non-allelic twin Spotting has been proposed as the most likely underlying mechanism. We report on the second instance of monozygotic twin discordance for PPV. Identical twins were observed shortly after birth, one affected by PPV and the other healthy, except for a standard Mongolian Spot. Membrane examination was compatible with a monochorionic diamniotic pregnancy, and microsatellite analysis demonstrated monozygosity. This report confirms that PPV likely originates from a post-zygotic mutation rising shortly after conception and affecting different cell lineages. Speculations about mechanisms linked to phenotypic discrepancies among identical twins were also put forward.

  • Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis
    'Wiley', 2011
    Co-Authors: Marco Castori, Stefano Sarazani, Francesco Binni, Francesca Romana Pezzella, Giovanni Cruciani, Paola Grammatico
    Abstract:

    Phacomatosis pigmentovascularis (PPV) is a group of sporadic skin disorders combining widespread cutaneous capillary malformations and pigmented nevi. Etiopathogenesis of the various forms of PPV is unknown, although a non-allelic twin Spotting has been proposed as the most likely underlying mechanism. We report on the second instance of monozygotic twin discordance for PPV. Identical twins were observed shortly after birth, one affected by PPV and the other healthy, except for a standard Mongolian Spot. Membrane examination was compatible with a monochorionic diamniotic pregnancy, and microsatellite analysis demonstrated monozygosity. This report confirms that PPV likely originates from a post-zygotic mutation rising shortly after conception and affecting different cell lineages. Speculations about mechanisms linked to phenotypic discrepancies among identical twins were also put forward. (C) 2011 Wiley-Liss, Inc