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Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypotonia associated with neurological damage and hair shaft dysplasia – particularly pili torti. Pili torti is usually very subtle in the first 3 months of life and gradually increases during the first year. Light microscopy examination in search for pili torti requires the observation of more than 50 hair shafts. In contrast, trichoscopy with a hand-held dermatoscope allows to easily identify the hair shaft defect. We report a case of a Hispanic male infant with MD in whom we show that trichoscopy is superior to hair light microscopy in revealing pili torti.

Background Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects patients younger than 5 years. In the absence of an available, affordable diagnostic test, detailed clinical history and physical examination are still fundamental to make a diagnosis. Methods We present five representative cases with KD-like presentations: systemic onset juvenile idiopathic arthritis, mycoplasma-induced rash and mucositis, staphylococcal scalded skin syndrome, BCGosis, and the recently described multisystemic inflammatory syndrome in children (MIS-C) associated with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) virus. Results Rash, fever, and laboratory markers of inflammation can be present in several childhood diseases that may mimic KD. Conclusion The term 'Kawasaki syndrome' instead of 'Kawasaki disease' may be more appropriate. Physicians should consider an alternative diagnosis that may mimic KD, particularly considering MIS-C during the present pandemic, as an aggressive diagnostic and therapeutic approach is needed.

Background Oral ivermectin is a safe broad spectrum anthelminthic used for treating several neglected tropical diseases (NTDs). Currently, ivermectin use is contraindicated in children weighing less than 15 kg, restricting access to this drug for the treatment of NTDs. Here we provide an updated systematic review of the literature and we conducted an individual-level patient data (IPD) meta-analysis describing the safety of ivermectin in children weighing less than 15 kg. Methodology/Principal findings A systematic review was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) for IPD guidelines by searching MEDLINE via PubMed, Web of Science, Ovid Embase, LILACS, Cochrane Database of Systematic Reviews, TOXLINE for all clinical trials, case series, case reports, and database entries for reports on the use of ivermectin in children weighing less than 15 kg that were published between 1 January 1980 to 25 October 2019. The protocol was registered in the International Prospective Register of Systematic Reviews (PROSPERO): CRD42017056515. A total of 3,730 publications were identified, 97 were selected for potential inclusion, but only 17 sources describing 15 studies met the minimum criteria which consisted of known weights of children less than 15 kg linked to possible adverse events, and provided comprehensive IPD. A total of 1,088 children weighing less than 15 kg were administered oral ivermectin for one of the following indications: scabies, mass drug administration for scabies control, crusted scabies, cutaneous larva migrans, myiasis, pthiriasis, strongyloidiasis, trichuriasis, and parasitic disease of unknown origin. Overall a total of 1.4% (15/1,088) of children experienced 18 adverse events all of which were mild and self-limiting. No serious adverse events were reported. Conclusions/Significance Existing limited data suggest that oral ivermectin in children weighing less than 15 kilograms is safe. Data from well-designed clinical trials are needed to provide further assurance., Author summary Oral ivermectin is a safe and efficacious drug for the treatment of neglected tropical diseases. To date, ivermectin is not indicated in children weighing less than 15 kg because there have been insufficient safety data to support a change of recommendation. A PRISMA-level systematic review was conducted, and 97 potential sources were identified. All lead investigators were contacted to share individual patient data if they could provide the minimum criteria. These were the known weights of the children less than 15 kg in whom there were possible adverse events. A total of 17 investigators replied, sharing individual-level patient data (IPD) from 15 studies, which represent a database of 1,088 children weighing less than 15 kg treated with oral ivermectin. Overall 18 adverse events were reported in 1.4% (15/1,088) of children, all of which were mild and self-limiting. No serious adverse events were recorded. These data suggest that ivermectin is safe for use in children weighing less than 15 kilograms. Further data from well-designed clinical trials are needed to assess the safety of oral ivermectin at escalating doses in children weighing less than 15 kg.

We present the case of a male infant diagnosed with IPEX (immune dysregulation, polyendocrinopathy, enteropathy, and X-linked) syndrome who presented a generalized rash with a BCG site reaction several months after vaccination. Erythema and induration at BCG site might be due to BCG which is a known complication of inborn errors of immunity with susceptibility to mycobacterial infection. However, in our patient this dermatological manifestation might be secondary to immune dysregulation, given the important role of Tregs and Th17 cells in mycobacterial immunity, similar to that observed in Kawasaki disease patients.

Rationale: Kawasaki disease (KD) is an acute vasculitis of small and medium vessels; whereas systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease. Their presentation is varied and not always straightforward, leading to misdiagnosis. There have been case reports of lupus onset mimicking KD and KD presenting as lupus-like. Coexistence of both diseases is also possible. Patient concerns: We present three adolescents, one with fever, rash, arthritis, nephritis, lymphopenia, and coronary aneurysms, a second patient with rash, fever, aseptic meningitis, and seizures, and a third patient with fever, rash, and pleural effusion. Diagnoses: The first patient was finally diagnosed with SLE and KD, the second patient initially diagnosed as KD but eventually SLE and the third patient was diagnosed at onset as lupus but finally diagnosed as KD. Interventions: The first patient was treated with IVIG, corticosteroids, aspirin, coumadin and mycophenolate mofetil. The second patient was treated with IVIG, corticosteroids and methotrexate and the third patient with IVIG, aspirin and corticosteroids. Lessons: Both diseases may mimic each other's clinical presentation. KD in adolescence presents with atypical signs, incomplete presentation, and develop coronary complications more commonly. An adolescent with fever and rash should include KD and SLE in the differential diagnosis.

Infantile hemagiomas (IH) are the most common soft tissue tumors in infancy. They are characterized by significant growth during the first months of life, followed by slow spontaneous involution over the ensuring years. The process of involution takes several years, but usually the regression of most of the tumors ends at 4 years of age. Unfortunately, some of the IH develop complications, resulting in functional impairment, pain and disfigurement. The decision to start treatment and the choice of the best therapeutic option (topic or systemic) should be individualized depending on several factors: the size of the lesion, the location, the presence of complications such as ulceration, the risk of scarring or disfigurement, the age of the patient, the rate of growth or regression at the time of diagnosis, the risks and benefits of the treatment, the availability of the medication, the costs, and the experience of the attending physician.Los hemagiomas infantiles (HI) son los tumores de tejidos blandos más frecuentes de la infancia. Se caracterizan por un crecimiento significativo durante los primeros meses de vida, seguido de una involución lenta y espontánea a lo largo de un periodo que puede durar algunos años. Usualmente, la regresión de la mayor parte del tumor termina a los 4 años de edad. Sin embargo, algunos de los HI desarrollan complicaciones, lo que resulta en alteraciones funcionales, dolor y desfiguramiento. La decisión de administrar tratamiento a un paciente con HI y elegir la mejor opción terapéutica para ese paciente (tratamiento tópico o sistémico) debe ser individualizada, dependiendo de varios factores: el tamaño de la lesión, la localización, la presencia de complicaciones como ulceración, el riesgo de cicatrización o desfiguramiento, la edad del paciente, la tasa de crecimiento o de involución al momento del diagnóstico, los riesgos y beneficios de administrar el tratamiento, la disponibilidad del medicamento, los costos y la experiencia del médico tratante.

Infantile hemagiomas (IH) are the most common soft tissue tumors in infancy. They are characterized by significant growth during the first months of life, followed by slow spontaneous involution over the ensuring years. The process of involution takes several years, but usually the regression of most of the tumors ends at 4 years of age. Unfortunately, some of the IH develop complications, resulting in functional impairment, pain and disfigurement. The decision to start treatment and the choice of the best therapeutic option (topic or systemic) should be individualized depending on several factors: the size of the lesion, the location, the presence of complications such as ulceration, the risk of scarring or disfigurement, the age of the patient, the rate of growth or regression at the time of diagnosis, the risks and benefits of the treatment, the availability of the medication, the costs, and the experience of the attending physician.

I Generalidades La piel funciona como barrera entre el cuerpo y el medio ambiente al prevenir la pérdida de líquidos y electrolitos, regular la temperatura corporal y proteger contra infecciones y diversos estímulos mecánicos, térmicos, y ambientales. Además, es esencial para el sentido del tacto y la síntesis de vitamina D.1-4En el niño la piel es frágil, delgada y más propensa a dermatitis e infecciones.2,5,6 Mientras que en el adolescente, la piel experimenta cambios secundarios al alza en los andrógenos circulantes, que se traducen en mayor producción de sebo y predisposición al acné.7

La dermatitis atópica es la enfermedad cutánea inflamatoria más común, afecta principalmente a los niños (prevalencia de 20%) y suele iniciarse antes de los 5 años (90%).1 El curso clínico es crónico y genera recidiva; dos tercios de los pacientes se controlan en la etapa adulta.2 La fisiopatología resulta de la interacción de factores genéticos, inmunológicos y ambientales, con disfunción de la barrera cutánea y desequilibrio inmunitario, además de elevada pérdida transepidérmica de agua, inflamación y mayor permeabilidad a los alergenos, irritantes y microorganismos.3

BACKGROUND: Morphea is an inflammatory disease with diffuse thickening and hardening of the skin. It is common in children and it has been reported that as many as 40% have extracutaneous articular and neurological manifestations, vascular and ocular disorders, and gastrointestinal or respiratory symptoms.RATIONALE: There are no studies of associated extracutaneous manifestations in Mexican children with morphea.OBJECTIVE: Describe clinical characteristics, frequency of extracutaneous manifestations, and treatment of pediatric patients with morphea who received care at the Instituto Nacional de Pediatría.MATERIAL AND METHODS: A retrospective study of patients with morphea, 1 to 18 years of age, who received care between January 1, 2000, and December 31, 2015.RESULTS: Thirty-two patients with morphea were included, half (n = 16) with the linear subtype, followed by plaque-type morphea in 7 (22%). Extracutaneous manifestations were reported in 23 (72%) patients; the most common were: musculoskeletal in 23 (72%), neurological in 9 (28%), and ophthalmological in 3 (9%). Twenty-three patients (72%) required systemic treatment. Nineteen patients (60%) required orthopedic and surgical treatment for complications. The clinical evolution was toward remission in 72% of the patients (n = 23).CONCLUSIONS: In this series of 32 cases of children with morphea, 72% had extracutaneous manifestations, principally musculoskeletal and neurological. It is important to conduct targeted questioning, and if necessary perform paraclinical studies, to identify extracutaneous manifestations which may be associated with morphea, especially when it is linear or extensive.

El acné juvenil o acné vulgar es una enfermedad inflamatoria crónica que afecta a la unidad pilosebácea. La producción de sebo por las glándulas sebáceas, secundaria al estímulo hormonal, condiciona un proceso obstructivo del conducto pilosebáceo por retención de sebo y células anormales seguido de un proceso inflamatorio. Generalmente es de inicio lento, de evolución prolongada, con remisiones parciales y brotes agudos.

El uso prolongado de esteroides tópicos en niños se puede asociar con efectos adversos locales y sistémicos. Se presenta el caso de una paciente de seis meses de edad con síndrome de Cushing iatrogénico y sarna costrosa tras el uso de betametasona al 0.05% en el área del pañal. La sarna costrosa es una variedad de escabiosis que tiene la particularidad de ser más extensa y más contagiosa; generalmente se observa en pacientes inmunodeprimidos. En este caso fue favorecida por la aplicación crónica de esteroides tópicos. Los médicos de primer contacto y los padres deben conocer los efectos secundarios potenciales de los esteroides tópicos, especialmente en áreas de piel delgada o cubierta (como el área del pañal) en donde la absorción de los esteroides tópicos se incrementa.

Hydroa vacciniforme-like lymphoma (HVLL) is an Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disorder of childhood that occurs mainly in Central and South America and Asia. We present the clinicopathological features of 20 Mexican children with HVLL with a median age of 8 years at diagnosis (range, 1-15). All patients presented with skin lesions involving sun-exposed areas, but not exclusively. Fever, lymphadenopathy, and hepatosplenomegaly were often observed. Most patients were treated with immunomodulators and/or immunosuppressive agents, resulting in temporary remission. For 13 patients follow-up was available for a median of 3 years (range, 1 month-13 years). Three patients with long follow-up (9-13 years) are alive with disease. Four patients died, 2 after developing systemic lymphoma. Histologically, the skin showed a predominantly angiocentric and periadnexal Epstein-Barr early RNA+ lymphoid infiltrate with variable atypia and subcutaneous involvement. Fifteen patients showed a T-cell phenotype (12, αβ; 2, γδ; 1, silent phenotype) and monoclonal T-cell receptor-γ rearrangements, whereas 6 exhibited a natural killer (NK)-cell phenotype. Four patients had hypersensitivity to mosquito bites. One patient showed both phenotypes. HVLL is an EBV-associated lymphoproliferative disorder of αβ-, γδ-, or NK-cell phenotype with a broad clinical spectrum, usually prolonged clinical course, and risk for progression to systemic disease.

Rarely, systemic lupus erythematosus (SLE) presents with bullous lesions due to severe edema and hydropic degeneration of the basal layer, or as a subepidermal blistering disease. Here, we describe two Mexican teenagers, one with SLE with blisters and another with bullous SLE. We also discuss the mechanisms and clinical implications of lesion formation in patients with SLE and bullae.

Se ha demostrado que la educación terapéutica contribuye eficazmente a prevenir complicaciones y a mejorar el cumplimiento del tratamiento, que aumenta la calidad de vida en numerosas enfermedades crónicas.

Los exantemas de la infancia son erupciones cutáneas localizadas o generalizadas que pueden ser causados por virus, bacterias, medicamentos o estar asociados con enfermedades sistémicas. La mayoría de los exantemas en la infancia son diagnosticados y tratados por el médico de atención primaria y por el pediatra, por lo que es deseable que ambos estén familiarizados con los exantemas clásicos y los atípicos.

Se denomina fotoprotección al conjunto de medidas que se pueden instaurar con el fin de proteger a la piel de la agresión producida por la exposición a los rayos solares. Incluye medidas físicas de evitación y el uso de fotoprotectores con el objetivo de prevenir posibles daños de la radiación ultravioleta en la piel.1