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Juvenile xanthogranuloma in Noonan syndrome.
Ali, Marwan M; Gilliam, Amy E; Ruben, Beth S; Tidyman, William E; Rauen, Katherine A.
Afiliación
  • Ali MM; California Maternal Fetal Medicine, Folsom, California, USA.
  • Gilliam AE; Department of Dermatology, University of California San Francisco, San Francisco, California, USA.
  • Ruben BS; Dermatology and Dermatopathology, Palo Alto Medical Foundation Medical Group, Palo Alto, California, USA.
  • Tidyman WE; Department of Dermatology, University of California San Francisco, San Francisco, California, USA.
  • Rauen KA; Dermatology and Dermatopathology, Palo Alto Medical Foundation Medical Group, Palo Alto, California, USA.
Am J Med Genet A ; 185(10): 3048-3052, 2021 10.
Article en En | MEDLINE | ID: mdl-34032360
ABSTRACT
Noonan syndrome (NS) is one of the common RASopathies. While the clinical phenotype in NS is variable, it is typically characterized by distinctive craniofacial features, cardiac defects, reduced growth, bleeding disorders, learning issues, and an increased risk of cancer. Several different genes cause NS, all of which are involved in the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway. Juvenile xanthogranuloma (JXG) is an uncommon, proliferative, self-limited cutaneous disorder that affects young individuals and may be overlooked or misdiagnosed due to its transient nature. A RASopathy that is known to be associated with JXG is neurofibromatosis type 1 (NF1). JXG in NF1 has also been reported in association with a juvenile myelomonocytic leukemia (JMML). As RASopathies, both NS and NF1 have an increased incidence of JMML. We report a 10-month-old female with NS who has a PTPN11 pathogenic variant resulting in a heterozygous SHP2 p.Y62D missense mutation. She was found to have numerous, small, yellow-pink smooth papules that were histopathologically confirmed to be JXG. In understanding the common underlying pathogenetic dysregulation of the Ras/MAPK pathway in both NS and NF1, this report suggests a possible molecular association for why NS individuals may be predisposed to JXG.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Xantogranuloma Juvenil / Predisposición Genética a la Enfermedad / Leucemia Mielomonocítica Juvenil / Proteína Tirosina Fosfatasa no Receptora Tipo 11 / Síndrome de Noonan Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Xantogranuloma Juvenil / Predisposición Genética a la Enfermedad / Leucemia Mielomonocítica Juvenil / Proteína Tirosina Fosfatasa no Receptora Tipo 11 / Síndrome de Noonan Límite: Female / Humans / Infant Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos