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Copyright of Boletín Médico del Hospital Infantil de México is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by EDA pathogenic variants. Female carriers show several clinical manifestations in variable percentages. We studied 11 Mexican heterozygous females with an EDA variant. The most frequent symptoms were similar to previous reports; however, two females (18%) reported dry eye syndrome, data rarely explored in carriers. The penetrance was 91% with clinical variability that might be related to the location of the mutation and/or to a skewed X-inactivation pattern. Our results highlight the importance of offering molecular testing to potential female carriers and support XLHED as an X-linked entity with incomplete penetrance in females. [ABSTRACT FROM AUTHOR]

Congenital syphilis is a remergering infection in Mexico and the world. We describe the case of a female infant with perinatal exposure to human immunodeficiency virus, early onset congenital syphilis with multisystem disease diagnosed by clinical history, skin manifestations and confirmed by immunohistochemistry and histopathology, which was successfully managed with penicillin. Prevention strategies should address reproductive health and prenatal care, reducing the rates of prematurity, fetal and neonatal mortality and irreversible consequences of this condition that remains a public health problem today. [ABSTRACT FROM AUTHOR]

Congenital syphilis remains a public health problem in the XXI century, secondary to the emergence of infection with human immunodeficiency virus, drug abuse during pregnancy, and limited access to health care in some communities, avoiding the timely diagnosis and treatment. The skin lesions in congenital syphilis occur in 60% of cases, often being key to the suspected diagnosis of this entity. Pediatricians and dermatologists should be familiar with these clinical features and alert to the possibility of congenital syphilis, especially in high-risk pregnant women and in those who received no prenatal care or it was late. Congenital syphilis is not only a preventable disease, its timely detection would decrease health care costs in developed and developing countries. This paper reviews the latest findings in the diagnosis and treatment of congenital syphilis as well as the panorama of the disease in Mexico. [ABSTRACT FROM AUTHOR]

Copyright of Boletín Médico del Hospital Infantil de México is the property of Publicidad Permanyer SLU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Proteus syndrome is a rare, sporadic and congenital disorder consisting of disproportionate overgrowth of multiple tissues, most of them of mesodermal origin, vascular malformations, and epidermal or connective tissue nevi. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. Patients with Proteus syndrome present diverse and variable phenotypes because of the syndrome's mosaic pattern of distribution. Cohen and Hayden first identified Proteus syndrome in 1979, although some evidence of this syndrome was published in the medical literature as early as 1907. [ABSTRACT FROM AUTHOR]

Introducción: El neuroblastoma es el tumor maligno más frecuente en el primer año de vida y el tumor sólido extracraneal más frecuente en la infancia. Solo el 1% de los casos debuta con metástasis cutáneas, caracterizadas por nódulos azulados subcutáneos. Se presenta el caso de un lactante con un neuroblastoma suprarrenal izquierdo en el que las metástasis cutáneas constituían el síntoma principal. Caso clínico: Lactante de sexo femenino, de 2 meses de edad, sin antecedentes de importancia para el padecimiento actual. Acudió por presentar dermatosis diseminada en la región cervical y occipital, el abdomen, el muslo derecho y el pie izquierdo. La dermatosis se caracteriza por nódulos subcutáneos, sólidos, bien delimitados, < 1 cm, de color azulado, que iniciaron su aparición a los 7 días de vida en el hipocondrio derecho, con crecimiento progresivo, asintomáticos. Se realizó biopsia de un nódulo y se reportó la presencia de células pequeñas con núcleo denso hipercromático, escaso citoplasma y dispuestas en nidos. La inmunohistoquímica fue positiva para cromogranina y enolasa neuronal específica. Los hallazgos fueron compatibles con metástasis cutánea de neuroblastoma. Se solicitó valoración y abordaje por oncología pediátrica, que reportó un estadio 4 de la enfermedad y se inició el tratamiento correspondiente. Conclusiones: Los pediatras y los dermatólogos pediatras son los primeros en atender a niños con alguna lesión cutánea. Se deben tener en cuenta las metástasis cutáneas, que pueden aparecer antes o simultáneamente al diagnóstico de un tumor primario. Por lo tanto, se debe realizar un correcto abordaje con el fin de mejorar el pronóstico y la calidad de vida del paciente.

Background: Ectodermal dysplasias are a group of genodermatoses characterized by dystrophy of ectodermal derived structures. The most frequent presentation of the ectodermal dysplasias is the hypohidrotic type, which has an incidence of 7/100,000 newborns and has been described in all ethnic groups. The hypohidrotic ectodermal dysplasia (HED) has different etiologies, and it is more frequently associated with an X-linked pattern of inheritance caused by pathogenic variants of the EDA gene in Xq13.1. EDA encodes the protein ectodisplasin A, a signal molecule which participates in epithelium and mesenchymal development of the skin., Case Report: A 6 year-old male patient with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. The direct sequencing analysis of EDA in our patient detected a de novo pathogenic variant, c.466C>T, p.Arg156Cys, rs132630313. This variant has been previously described in different ethnic groups, including Mexican families, and is considered a mutational hotspot. The clinical characteristics, etiology and management of the X-linked HED, including the possibility of prenatal therapy in order to avoid the clinical manifestations are discussed., Conclusions: The molecular analysis in patients with X-linked HED is of relevance, as it enables to confirm the clinical diagnosis and also, it allows a genetic assessment with molecular bases., (Copyright: © 2020 Permanyer.)

We describe the case of a 14-year-old girl with Down syndrome and a large cutaneous plaque localized to the right neck and shoulder that had enlarged over five years after a minor traumatic injury. The plaque was characterized by numerous inflammatory nodules and fistulae that secreted purulent discharge. Nocardia grains were identified and Nocardia brasiliensis was identified by culture. Histopathology examination showed a chronic inflammatory infiltrate with granuloma development. The treatment scheme was with Diaminodiphenylsulfone 50/mg/d and Trimethoprim-Sulfamethoxazole 800/160 mg BID. Therapy was continued over 1(1/2) years, with a tapering dose. After 2(1/2) years of continuous treatment, clinical and microbiological healing was achieved.