Search

BACKGROUND/OBJECTIVES Acute graft-versus-host disease (aGVHD) is a serious condition after allogeneic hematopoietic stem cell transplantation (HSCT), frequently involving skin, gut, and liver. It can be difficult to diagnose early, yet this is vital for adequate management. We sought to identify initial clinical and histopathological features in children with suspected GVHD and the association with clinical course and outcomes. METHODS Retrospective study of patients with skin biopsies for suspected aGVHD from 2006 to 2016. We collected demographic and clinical information, histologic, and immunohistochemical (IHC) findings, and outcomes during follow-up. Bivariate and multivariate analyses were done to identify risk factors associated with remission, development of severe/life-threatening aGVHD, and mortality. RESULTS We included 42 patients, 15 females. Skin manifestations occurred 51 days (median) after HSCT. On biopsy, 76.2% had mild (stage 1-2) skin aGVHD; during the course of the disease, severity and systemic involvement increased to global grade III/IV in 66.6%. All patients received treatment; 15 are in remission from aGVHD and 23 have died. Histologic features were diagnostic in 83.3%. On bivariate and multivariate analysis, we identified initial clinical and histologic findings that were associated with the measured outcomes: odds of remission from aGVHD were increased when focal vacuolar changes were found on skin biopsy (OR 6.028; 95%CI:1.253-28.992) but decreased by initial hepatic aGVHD (OR 0.112; 95%CI: 0.017-0.748); severe/life-threatening aGVHD was associated with initial gastrointestinal aGVHD (OR 6.054; 95%CI:1.257-29.159); and odds of mortality were decreased with male donor (OR 0.056; 95%CI:0.004-0.804), nulliparous female donor (OR 0.076; 95%CI:0.009-0.669), and focal vacuolar changes on skin biopsy (OR 0.113; 95%CI:0.017-0.770). CONCLUSIONS We found novel indicators predictive of remission, severity, and mortality in children with aGVHD. Further studies of this condition in children are needed.

Background Autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation (APLAID) is an exceedingly rare monogenic autoinflammatory disease. To date, only five cases have been reported with four distinct pathogenic mutations. Objectives We present a novel case of APLAID, corroborated by molecular analysis, with newly described clinical findings including central nervous system vasculitis (CNSV); and distinctive histopathological characteristics that may expand our knowledge of this rare disease's phenotype. Methods This is a case report presentation of a 3-year-old boy, seen at a reference paediatric hospital in Mexico. His parents authorized the use of his clinical information and photographs. Results A 3-day-old boy presented to the emergency department with a vesiculo-pustular rash that resolved within 1 week. Two months later, he developed widespread papules and pseudovesicles that evolved into infiltrated plaques. He also had periodical flares of conjunctivitis, diarrhoea and erythematous blistering acral plaques triggered by upper respiratory infections. By the age of 10 months, he experienced seizures and CNSV. Laboratory work-up showed mild neutropenia, decreased serum levels of immunoglobulins and B-cell lymphopenia. A skin biopsy revealed a dense, perivascular and interstitial histiocytic and granulomatous infiltrate, with palisading granulomas, and leucocytoclastic vasculitis with karyorrhexis. APLAID syndrome was confirmed by Sanger sequencing of PLCG2 gene [heterozygous genotype LRG_376t1:c.2543T>C or p.(Leu848Pro)]. Conclusions Presence of CNSV has not been previously described in APLAID, however as the number of reported patients with APLAID is very small, it is possible that the overall spectrum of clinical manifestations has not been completely elucidated. The herein identified p.(Leu848Pro) variant was also documented in a Portuguese patient, suggesting that it could be a PLCG2 gene 'hot-spot'.

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.

Griscelli syndrome type 2 (GS2) features silvery-grey hair, bronzed skin and immunodeficiency.1 The only curative treatment for GS2 is haematopoietic stem cell transplantation (HSCT) which corrects the immune and haematologic defects with persistence of oculocutaneous abnormalities.

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

Morphoea, also known as localized scleroderma, is a disorder characterized by excessive collagen deposition leading to thickening of the dermis and/or subcutaneous tissues. Intravenous IgG therapy has induced improvement in some fibrotic conditions. The primary indication for subcutaneous IgG (SCIG) is in primary immunodeficiency disorders as replacement therapy; however, recently there has been considerable interest in SCIG as an immunomodulatory agent. We report an 11-year-old girl with deep morphoea who was successfully treated with SCIG.

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

Trisomy 13, or Patau syndrome, is a chromosomal disorder that can occur in complete, partial, or mosaic forms. Mosaicism is observed in 6% of individuals with trisomy 13 and, in contrast to the complete form, has wide phenotypic variability, longer survival, and in some patients an unusual skin pigmentary pattern similar to phylloid hypomelanosis. We describe here a 12-year-old girl with trisomy 13 mosaicism (mos 47,XX,+13[9]/46,XX[16]) who had three major malformations, an unusual skin pigmentary pattern, and prolonged survival.

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.

Dermoid cysts (DCs) are benign cutaneous tumors that tend to persist and grow. The aim of this study was to examine the clinicopathologic features of congenital DCs. We present a case series of 75 children with a clinicopathologic diagnosis of DC. Seventy-two cysts were located on the head, one on the neck, and two on the trunk. Six cysts were located along the midline. Eight patients had symptoms other than changes in cyst size. Imaging studies were performed on 15 patients. Surgical excision was the primary treatment in all 75 cases. Neurosurgery and ophthalmology services were involved in the care of some patients. Histopathologic studies reported a foreign body giant cell reaction in 17 of the cysts. No recurrence was documented. DCs can remain stable for years, but they can become symptomatic as a result of enlargement and rupture or, more rarely, as a result of extension into surrounding tissues. Physicians should be aware that certain locations have a higher risk of DC extension, and adequate diagnostic investigations should be performed before their complete resection.

The common manifestations of atopic dermatitis (AD) appear sequentially with involvement of the cheeks in infancy, flexural extremities in childhood, and hands in adulthood. Although less common clinical manifestations are well described, they have not been the subject of epidemiologic studies to describe their prevalence in specific age groups. This observational, cross-sectional, comparative study included 131 children younger than 18 of both sexes with AD who attended the clinics of the Dermatology Department of the National Institute of Pediatrics in Mexico City. Patients were examined to determine the presence of infrequent clinical manifestations of AD during infancy, preschool and school age, and adolescence and stratified according to sex, age, and number of clinical signs. A chi-square test was used to detect differences according to age and sex. Logistic regression analysis was also performed. The main findings according to age were genital dermatitis and papular-lichenoid dermatitis variant in infants; atopic feet, prurigo-like, nummular pattern, and erythroderma in preschool and school-aged children; and eyelid eczema and nipple dermatitis in adolescents. The risk of development of nipple dermatitis and eyelid eczema increased with age, and the development of genital dermatitis decreased with age. The knowledge of the prevalence of less common clinical manifestations of AD according to age in different populations might be helpful in diagnosing incipient cases of AD.

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.

Keratosis lichenoides chronica (KLC) is a rare acquired disease of adulthood, of unknown etiology, characterized by keratotic parallel linear lesions, retiform plaques, and keratotic, often follicular papules, chronicity and lichenoid histopathologic features. KLC of pediatric onset is considered extremely rare. Its features and relationship to adult onset KLC are unknown. We studied 8 cases of pediatric-onset KLC in the literature and 6 personal cases and compared them with 40 reported adult-onset KLC patients. The following features characterize pediatric-onset KLC: familial occurrence; probable autosomal recessive inheritance; early or congenital onset with facial erythemato-purpuric macules; forehead, eyebrow, and eyelash alopecia; pruritus; and a low frequency of other cutaneous and systemic abnormalities. Pediatric-onset KLC may represent a different disease or a subset of adult-onset KLC, with special genetic and clinical characteristics. Determining its precise nosology will have prognostic and therapeutic implications.

The common manifestations of atopic dermatitis (AD) appear sequentially with involvement of the cheeks in infancy, flexural extremities in childhood, and hands in adulthood. Although less common clinical manifestations are well described, they have not been the subject of epidemiologic studies to describe their prevalence in specific age groups. This observational, cross-sectional, comparative study included 131 children younger than 18 of both sexes with AD who attended the clinics of the Dermatology Department of the National Institute of Pediatrics in Mexico City. Patients were examined to determine the presence of infrequent clinical manifestations of AD during infancy, preschool and school age, and adolescence and stratified according to sex, age, and number of clinical signs. A chi-square test was used to detect differences according to age and sex. Logistic regression analysis was also performed. The main findings according to age were genital dermatitis and papular-lichenoid dermatitis variant in infants; atopic feet, prurigo-like, nummular pattern, and erythroderma in preschool and school-aged children; and eyelid eczema and nipple dermatitis in adolescents. The risk of development of nipple dermatitis and eyelid eczema increased with age, and the development of genital dermatitis decreased with age. The knowledge of the prevalence of less common clinical manifestations of AD according to age in different populations might be helpful in diagnosing incipient cases of AD.

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