The Experts below are selected from a list of 54 Experts worldwide ranked by ideXlab platform

Falsaperla R. - One of the best experts on this subject based on the ideXlab platform.

  • NF1 microdeletion syndrome: Case report of two new patients
    'Springer Science and Business Media LLC', 2019
    Co-Authors: Serra G., Zara F., Piro E., Corsello G., Falsaperla R.
    Abstract:

    Background: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation: We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-Au-lait spots and axillary freckling, as well as a Lisch Nodule in the left eye, strabismus, high-Arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five café-Au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases. Conclusions: The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome

  • NF1 microdeletion syndrome: Case report of two new patients
    'Springer Science and Business Media LLC', 2019
    Co-Authors: Serra G., Zara F., Piro E., Corsello G., Falsaperla R.
    Abstract:

    Background: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation: We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen caf\ue9-Au-lait spots and axillary freckling, as well as a Lisch Nodule in the left eye, strabismus, high-Arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five caf\ue9-Au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases. Conclusions: The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome

Stefano Calvieri - One of the best experts on this subject based on the ideXlab platform.

  • Lisch Nodules of the iris in neurofibromatosis type 1.
    Journal of the European Academy of Dermatology and Venereology : JEADV, 2004
    Co-Authors: Antonio Giovanni Richetta, Sandra Giustini, Santi Maria Recupero, M. Pezza, V. Carlomagno, G. Amoruso, Stefano Calvieri
    Abstract:

    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch Nodule represents one of the most common NF1 ocular manifestations. Several studies have reported that the Lisch Nodule is a melanocytic hamartoma but its pathogenesis is still debated. We have studied the histopathological and ultrastructural features of a Lisch Nodule of a 50-year-old woman biopsied during an intracapsular cataract extraction. Our researches revealed that it was composed of three main cytotypes: pigmented cells, fibroblast-like cells and mast cells, showing a pattern similar to a neurofibroma. Furthermore, we hypothesize that Lisch Nodules are compatible with neurofibromas.

Jane Halperin - One of the best experts on this subject based on the ideXlab platform.

  • Congenital Horner's syndrome does not alter Lisch Nodule formation
    Annals of neurology, 1994
    Co-Authors: Joel S. Mindel, Allan E. Rubenstein, Sibylle Wallace, Alan M. Aron, Jane Halperin
    Abstract:

    A 21-year-old woman with neurofibromatosis type 1 (NF-1) had a unilateral congenital Horner's syndrome with resultant hypopigmentation of the affected iris. Lisch Nodules, which are melanocytic hamartomas, were similar in number, size, and pigmentation in both eyes. The present findings suggest that the formation of Lisch Nodules is not influenced by the presence or absence of sympathetic innervation of the iris.

Serra G. - One of the best experts on this subject based on the ideXlab platform.

  • NF1 microdeletion syndrome: Case report of two new patients
    'Springer Science and Business Media LLC', 2019
    Co-Authors: Serra G., Zara F., Piro E., Corsello G., Falsaperla R.
    Abstract:

    Background: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation: We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-Au-lait spots and axillary freckling, as well as a Lisch Nodule in the left eye, strabismus, high-Arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five café-Au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases. Conclusions: The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome

  • NF1 microdeletion syndrome: Case report of two new patients
    'Springer Science and Business Media LLC', 2019
    Co-Authors: Serra G., Zara F., Piro E., Corsello G., Falsaperla R.
    Abstract:

    Background: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. Case presentation: We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen caf\ue9-Au-lait spots and axillary freckling, as well as a Lisch Nodule in the left eye, strabismus, high-Arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five caf\ue9-Au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases. Conclusions: The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome

Antonio Giovanni Richetta - One of the best experts on this subject based on the ideXlab platform.

  • Lisch Nodules of the iris in neurofibromatosis type 1.
    Journal of the European Academy of Dermatology and Venereology : JEADV, 2004
    Co-Authors: Antonio Giovanni Richetta, Sandra Giustini, Santi Maria Recupero, M. Pezza, V. Carlomagno, G. Amoruso, Stefano Calvieri
    Abstract:

    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch Nodule represents one of the most common NF1 ocular manifestations. Several studies have reported that the Lisch Nodule is a melanocytic hamartoma but its pathogenesis is still debated. We have studied the histopathological and ultrastructural features of a Lisch Nodule of a 50-year-old woman biopsied during an intracapsular cataract extraction. Our researches revealed that it was composed of three main cytotypes: pigmented cells, fibroblast-like cells and mast cells, showing a pattern similar to a neurofibroma. Furthermore, we hypothesize that Lisch Nodules are compatible with neurofibromas.