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The Publisher regrets that this article is an accidental duplication of an article that has already been published, https://doi.org/10.36959/472/363. The duplicate article has therefore been withdrawn. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
RESUMEN
INTRODUCTION: Congenital muscular hyperplasia of the hand is a rarely described entity, characterized by the presence of aberrant or accessory muscles in the hypothenar eminence, which has been always reported as sporadic anomaly in the medical literature. The aim of this paper is to report a series of cases with a phenotype of aberrant muscle hyperplasia associated with PIK3CA mutations. MATERIAL AND METHODS: We describe a retrospective series of cases followed at our institution between 2008 and 2020, with a unique phenotypein the context of PIK3CA mutations. RESULTS: A total of 6 patients were included (4 males and 2 females), who presented with an enlargement of the hypothenar eminence of the hand and peculiar wrinkling of the overlying skin, associated with ulnar deviation of the metacarpo-phalangeal joints. In all cases, variable degrees of congenital overgrowth of the ipsilateral limb were observed. Skin punch biopsy (5 mm diameter and 3-5 mm depth) was performed on 4 patients, where striated muscle hyperplasia and the presence of striated muscular fibers in the dermis and hypodermis were observed in all of them. Genetic studies revealed PIK3CA mutation in 3 of the 4 patients whose affected tissue was analyzed, in a mosaic state ranging from 3 to 8% (His1047Arg, Glu542Lys, and Cys420Arg, 1 case each). CONCLUSION: Aberrant muscular hyperplasia of the hand is a well-recognized entity scarcely described in association with PIK3CA spectrum disorder in the pediatric population. The role of PIK3CA in muscle overgrowth is not yet well understood.
INTRODUCCION: La hiperplasia muscular congénita de la mano es una entidad rara, caracterizada por la presencia de músculos aberrantes o accesorios en la eminencia hipotenar, que siempre se ha descrito en la literatura médica como una anomalía esporádica. El objetivo de este artículo es informar de una serie de casos con fenotipo de hiperplasia muscular aberrante asociada a mutaciones del PIK3CA. MATERIAL Y METODOS: Serie retrospectiva de casos atendidos en nuestro centro entre 2008 y 2020, con un fenotipo único en el contexto de las mutaciones del PIK3CA. RESULTADOS: Se incluyeron un total de 6 pacientes (4 masculinos y 2 femeninos) con ensanchamiento de la eminencia hipotenar de la mano y arrugamiento peculiar de la piel suprayacente, asociado a desviación ulnar de las articulaciones metacarpofalángicas. En todos los casos se observaron grados variables de sobrecrecimiento congénito del miembro ipsilateral. Se realizó biopsia cutánea por punch (5 mm de diámetro y 3-5 mm de profundidad) en 4 pacientes con hiperplasia muscular y presencia de fibras musculares estriadas en dermis e hipodermis. Los estudios genéticos revelaron mutación del PIK3CA en 3 de los 4 pacientes, cuyo tejido afectado fue enviado a analizar, con mosaicismo de entre el 3 y el 8% (His1047Arg, Glu542Lys y Cys420Arg respectivamente). CONCLUSION: La hiperplasia muscular aberrante de la mano es una entidad reconocida pero escasamente descrita en asociación con síndromes relacionados con el PIK3CA en la población pediátrica. A día de hoy sigue desconociéndose el papel del PIK3CA en el sobrecrecimiento muscular.
Asunto(s)
Mano , Niño , Fosfatidilinositol 3-Quinasa Clase I/genética , Femenino , Humanos , Hiperplasia , Masculino , Mutación , Estudios RetrospectivosRESUMEN
Introducción: La hiperplasia muscular congénita de la mano esuna entidad rara, caracterizada por la presencia de músculos aberranteso accesorios en la eminencia hipotenar, que siempre se ha descrito enla literatura médica como una anomalía esporádica. El objetivo de esteartículo es informar de una serie de casos con fenotipo de hiperplasiamuscular aberrante asociada a mutaciones del PIK3CA. Material y métodos: Serie retrospectiva de casos atendidos ennuestro centro entre 2008 y 2020, con un fenotipo único en el contextode las mutaciones del PIK3CA. Resultados: Se incluyeron un total de 6 pacientes (4 masculinos y2 femeninos) con ensanchamiento de la eminencia hipotenar de la manoy arrugamiento peculiar de la piel suprayacente, asociado a desviaciónulnar de las articulaciones metacarpofalángicas. En todos los casos seobservaron grados variables de sobrecrecimiento congénito del miembroipsilateral. Se realizó biopsia cutánea por punch (5 mm de diámetro y 3-5mm de profundidad) en 4 pacientes con hiperplasia muscular y presenciade fibras musculares estriadas en dermis e hipodermis. Los estudiosgenéticos revelaron mutación del PIK3CA en 3 de los 4 pacientes, cuyotejido afectado fue enviado a analizar, con mosaicismo de entre el 3 y el8% (His1047Arg, Glu542Lys y Cys420Arg respectivamente). Conclusión: La hiperplasia muscular aberrante de la mano es unaentidad reconocida pero escasamente descrita en asociación con síndromes relacionados con el PIK3CA en la población pediátrica. A día dehoy sigue desconociéndose el papel del PIK3CA en el sobrecrecimientomuscular.(AU)
Introduction: Congenital muscular hyperplasia of the hand is ararely described entity, characterized by the presence of aberrant oraccessory muscles in the hypothenar eminence, which has been alwaysreported as sporadic anomaly in the medical literature. The aim of thispaper is to report a series of cases with a phenotype of aberrant musclehyperplasia associated with PIK3CA mutations. Material and Methods: We describe a retrospective series of casesfollowed at our institution between 2008 and 2020, with a unique phe-notypein the context of PIK3CA mutations. Results: A total of 6 patients were included (4 males and 2 females),who presented with an enlargement of the hypothenar eminence ofthe hand and peculiar wrinkling of the overlying skin, associated withulnar deviation of the metacarpo-phalangeal joints. In all cases, variabledegrees of congenital overgrowth of the ipsilateral limb were observed.Skin punch biopsy (5 mm diameter and 3-5 mm depth) was performedon 4 patients, where striated muscle hyperplasia and the presence ofstriated muscular fibers in the dermis and hypodermis were observedin all of them. Genetic studies revealed PIK3CA mutation in 3 of the 4patients whose affected tissue was analyzed, in a mosaic state rangingfrom 3 to 8% (His1047Arg, Glu542Lys, and Cys420Arg, 1 case each). Conclusion: Aberrant muscular hyperplasia of the hand is a well-recognized entity scarcely described in association with PIK3CA spec-trum disorder in the pediatric population. The role of PIK3CA in muscleovergrowth is not yet well understood.(AU)
Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Hiperplasia , Coristoma , Sobrecrecimiento Gingival , Deformidades Congénitas de la Mano , Estudios Retrospectivos , PediatríaRESUMEN
Nine hundred and eighty-eight cleft patients born between 1950 and 1983 were registered in the Cleft Palate Clinic file at the University Pediatric Hospital, Medical Sciences Campus, University of Puerto Rico. The entire cleft population was studied to establish relationships among place of birth, sex, age, type of cleft, severity of cleft involvement, and lip side preference and to determine prevalence. The distribution of registered cleft patients by geographic region in Puerto Rico was similar to the distribution of the total population. Cleft patients occurred most frequently in the Northeast regions which have the greatest population density in the Island. Among the 988 cleft patients who were studied, the sex ratio (males to females) was slightly higher than one (1.06). This ratio was found to be similar to the sex ratio for births in Puerto Rico. The sex ratio varied among the different types of clefts: unilateral cleft lip and palate had the highest male to female sex ratio (1.7) and cleft palate alone had the lowest (0.6). Unilateral clefts of the primary and secondary palates were more common than bilateral clefts by a two-to-one ratio. Left sided cleft was more common than right sided cleft in unilateral cleft of the primary palate alone or combined with cleft of the secondary palate. A significant increase in prevalence of the cleft defect per year was observed until 1971. For all types of clefts the increased rate per year was 2.10 per hundred thousand.