Teenager with persistent facial edema and induration.

INTRODUCTION: Acute lymphoblastic leukemia (ALL) is the most common oncological disease in the pediatric population; however, skin infiltration occurs only in 1-3% of the patients and almost always manifests after the diagnosis is made. CLINICAL CASE: A male teenage patient who presented with facial edema and infiltration, associated with systemic symptoms such as asthenia and adynamia. On physical examination, the patient presented facial edema and indurated plaques, as well as cervical, inguinal, and axillary adenopathy. Complete blood count showed pancytopenia and a chest X-ray revealed a mediastinal mass. Due to a high suspicion of malignancy a bone marrow and skin biopsy was taken, both with pre-B ALL. Chemotherapy was started and the patient is now in maintenance phase. CONCLUSIONS: Leukemia cutis manifestations are heterogenous, from a small papule to a big nodule. It is more common in patients with acute myeloid leukemia and it is rare in patients with pre-B ALL, specially in the pediatric population. The diagnosis should be done with a biopsy and the treatment is with systemic chemotherapy. The diagnosis should always be considered in patients with unexplained edematous or indurated lesions, especially in the context of systemic symptoms.

INTRODUCCIÓN: La leucemia linfoblástica aguda es la enfermedad oncológica más común en la edad pediátrica; sin embargo, la infiltración a la piel solo ocurre en el 1-3% de los pacientes y se manifiesta habitualmente posterior al diagnóstico de leucemia. CASO CLÍNICO: Adolescente varón que acude a urgencias de nuestra unidad por presentar edema facial persistente, junto con astenia y adinamia. En la exploración física presenta edema facial con placas difusas induradas y adenopatía cervical, inguinal y axilar. Se decide realizar una biometría hemática, que muestra pancitopenia, y una radiografía de tórax, que revela una masa mediastinal. Por sospecha de malignidad se decide realizar una biopsia de médula ósea y de piel, dando como resultado leucemia linfoblástica pre-B en ambas. Se inició quimioterapia y actualmente se encuentra en fase de mantenimiento. CONCLUSIONES: Las manifestaciones clínicas de leucemia cutis son heterogéneas, desde una pápula pequeña hasta lesiones nodulares de diferentes tamaños. Lo más común es verlas en pacientes con leucemia mieloide aguda, y es muy raro en pacientes con leucemia linfoblástica aguda pre-B, especialmente en la edad pediátrica. El diagnóstico se realiza con una biopsia de piel y el tratamiento es con quimioterapia sistémica. Es importante tener en mente este diagnóstico en pacientes con síntomas sistémicos de leucemia.

Blefaroplastia com cantopexia em paciente portadora de cútis laxa: Um relato de caso / Blepharoplasty with canthopexy in a patient with cutis laxa: A case report

Cútis laxa é uma rara doença do tecido conectivo caracterizada pela disfunção das fibras elásticas. Indivíduos acometidos por essa enfermidade queixam-se de sua aparência envelhecida. Os tratamentos se baseiam no uso de cosméticos ou em técnicas cirúrgicas, sendo a cirurgia plástica uma ferramenta de extrema relevância. A blefaroplastia tem o objetivo de melhorar a aparência senil e proporcionar rejuvenescimento na área ao redor dos olhos, fazendo com que o olhar pareça mais descansado e alerta. Trata-se de um estudo observacional retrospectivo utilizando os dados do prontuário. Relato do Caso: Paciente do sexo feminino, 17 anos, encaminhada ao serviço de Cirurgia Plástica do Hospital Universitário Walter Cantídio, Fortaleza- CE, para tratamento devido à insatisfação com a sua aparência. Submetida a uma blefaroplastia superior e inferior associada a cantopexia sem cantotomia. No período pós-operatório, foi observado resultado satisfatório para a cirurgia proposta e adequada correção das alterações existentes. Conclusão: Observa-se a importância da correção cirúrgica facial nos casos de cútis laxa, ressaltando a relevância da aplicação de técnicas cirúrgicas adequadas e o aprimoramento das mesmas nesse perfil de paciente.

Cutis laxa is a rare connective tissue disease characterized by dysfunction of elastic fibers. Individuals affected by this disease complain about their aged appearance. Treatments are based on the use of cosmetics or surgical techniques, with plastic surgery being an extremely relevant tool. Blepharoplasty aims to improve the senile appearance and provide rejuvenation in the area around the eyes, making the look appear more rested and alert. This is a retrospective observational study using medical record data. Case Report: A female patient, 17 years old, was referred to the Plastic Surgery Service of the Walter Cantídio University Hospital, Fortaleza-CE, for treatment due to dissatisfaction with her appearance. She underwent upper and lower blepharoplasty associated with canthopexy without canthotomy. In the postoperative period, a satisfactory result was observed for the proposed surgery and adequate correction of existing changes. Conclusion: The importance of facial surgical correction in cases of lax skin is observed, highlighting the relevance of applying appropriate surgical techniques and improving them in this patient profile.

Ultrasound Pattern of Cutis Verticis Gyrata.

Cutis verticis gyrata (CVG) is a cutaneous benign condition that usually presents symmetric or asymmetric convoluted folds and deep furrows in the scalp, which mimic the disposition of the cerebral sulci and gyri. This scalp deformation may be a worrying situation for the patients and their families. Clinically, its diagnosis may be challenging because it can mimic other cutaneous conditions. So far, the ultrasonographic pattern of CVG has not been reported. Thus, we aim to review the ultrasound findings of this entity. All patients (n = 14) presented zones with dermal and hypodermal thickening that corresponded with the elevated clinical zones, followed by folds with normal cutaneous thicknesses. There was undulation of the cutaneous layers in all cases. The scalp areas involved the frontal, parietal, and occipital regions bilaterally. The mean maximum dermal and hypodermal thicknesses and echogenicities and the color Doppler characteristics are provided. No significant dilation of the hair follicles was detected. In conclusion, CVG presents an ultrasonographic pattern that can support its diagnosis and follow-up. This can help its differential diagnosis with other scalp dermatologic conditions.

Mimicking lipolytic, adipogenic, and secretory capacities of human subcutaneous adipose tissue by spheroids from distinct subpopulations of adipose stromal/stem cells.

Background: Adipose tissue engineering may provide 3D models for the understanding of diseases such as obesity and type II diabetes. Recently, distinct adipose stem/stromal cell (ASC) subpopulations were identified from subcutaneous adipose tissue (SAT): superficial (sSAT), deep (dSAT), and the superficial retinacula cutis (sRC). This study aimed to test these subpopulations ASCs in 3D spheroid culture induced for adipogenesis under a pro-inflammatory stimulus with lipopolysaccharide (LPS). Methods: The samples of abdominal human subcutaneous adipose tissue were obtained during plastic aesthetic surgery (Protocol 145/09). Results: ASC spheroids showed high response to adipogenic induction in sSAT. All ASC spheroids increased their capacity to lipolysis under LPS. However, spheroids from dSAT were higher than from sSAT (p = 0.0045) and sRC (p = 0.0005). Newly formed spheroids and spheroids under LPS stimulus from sSAT showed the highest levels of fatty acid-binding protein 4 (FABP4) and CCAAT/enhancer-binding protein-α (C/EBPα) mRNA expression compared with dSAT and sRC (p < 0.0001). ASC spheroids from sRC showed the highest synthesis of angiogenic cytokines such as vascular endothelial growth factor (VEGF) compared with dSAT (p < 0.0228). Under LPS stimulus, ASC spheroids from sRC showed the highest synthesis of pro-inflammatory cytokines such as IL-6 compared with dSAT (p < 0.0092). Conclusion: Distinct physiological properties of SAT can be recapitulated in ASC spheroids. In summary, the ASC spheroid from dSAT showed the greatest lipolytic capacity, from sSAT the greatest adipogenic induction, and sRC showed greater secretory capacity when compared to the dSAT. Together, all these capacities form a true mimicry of SAT and hold the potential to contribute for a deeper understanding of cellular and molecular mechanisms in healthy and unhealthy adipose tissue scenarios or in response to pharmacological interventions.

Autologous fat grafting as a novel technique for primary essential cutis verticis gyrata.

Background: Cutis verticis gyrata (CVG) is a condition of excessive skin growth and excessive laxity of the scalp, leading to deep furrows and folds that resemble the gyri and outer surface of the brain. Approaches for the treatment of CVG range from conservative to surgical, the last one being the predominant way of treating the condition, however, the surgery proposed in the recent literature may not be suitable for patients who desire a less invasive approach. Aim: To report the first case of autologous fat injection as a novel treatment option for primary essential CVG. Methods: A 51 -year-old Colombian man, with no medical records was treated with a scalp injection of autologous fat, with previous failed treatment with pressure therapy apply directly on skin is described. Results: A successful cosmetic improvement and a less invasive approach was reached after two sessions of autologous fat grafting. Conclusion: This method allowed excellent cosmetic outcomes while preserving the option of subsequent surgical repair in refractory cases.

Síndrome de Nicolau / Nicolau syndrome

Resumen El síndrome de Nicolau es una complicación infrecuente de la aplicación parenteral de diversos fármacos. Se caracteriza por la aparición de dolor, seguido de edema, eritema y luego una placa necrótica. Se reporta el caso de un hombre de 31 años que presenta este síndrome luego de la aplicación de penicilina benzatínica intramuscular. La biopsia apoyó el diagnóstico. Recibió tratamiento con enoxaparina y cilostazol con posterior mejoría.

Abstract Nicolau syndrome is a rare complication of the parenteral application of various drugs. It is char acterized by the appearance of pain, followed by edema, erythema, and then a necrotic plaque. We present the case of a 31-year-old male with this syndrome, after the application of intramuscular benzathine penicillin. The diagnosis was supported by the biopsy. He received treatment with enoxaparin and cilostazol with subsequent improvement.

Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata.

Cutis verticis gyrata (CVG) is classified as primary or secondary according to the absence or presence of underlying soft tissue abnormalities. We report an infant with Turner syndrome (TS) who in addition presented with CVG on the scalp. The skin biopsy revealed a hamartoma-like lesion. We reviewed the clinical and histopathological findings of the 13 reported cases of congenital CVG in patients with TS, including ours. In 11 of them, CVG was localized on the skin of the scalp, mainly on the parietal region, and in two, on the forehead. Clinically, CVG had a flesh-colored aspect, with absent or sparse hair, and was not progressive. CVG was classified as primary in four patients who had skin biopsy and it was attributed to the intrauterine lymphedema of TS. However, histopathology in two of these patients identified dermal hamartoma as a secondary cause of CVG, and in three others, including ours, there were hamartomatous changes. Although further studies are required, previous findings support the proposal that some CVG may instead be dermal hamartomas. This report alerts clinicians to recognize CVG as a low-frequency manifestation of TS, but also to consider the possible co-occurrence of TS in all female infants with CVG.

Síndrome de Bart: aplasia cutis congénita y epidermólisis bullosa / Bart's syndrome: aplasia cutis congenita and epidermolysis bullosa

La aplasia cutis congénita, también conocida como síndrome de Bart, ha sido asociada con todos los subtipos principales de epidermólisis bullosa. Esta enfermedad afecta a 1 por cada 10 000 recién nacidos vivos; solo se han descrito 500 casos en la literatura médica. Se caracteriza por afectar un miembro inferior con patrón en forma de S y presentar lesiones de epidermólisis bullosa en cualquier otra parte del cuerpo. Se presenta el caso de una neonata con las características clínicas mencionadas, hospitalizada en el Servicio de Neonatología del Hospital Pediátrico Universitario «José Luis Miranda». Este diagnóstico es principalmente clínico y se basa en la evidencia de áreas de pérdida cutánea con predominio en miembros inferiores, lesiones ampollares en piel y mucosas, y deformidades ungueales. Su pronóstico puede ser fatal. Este caso reviste gran interés por su baja incidencia; su diagnóstico precoz contribuyó a evitar complicaciones.

Aplasia cutis congenita, also known as Bart's syndrome, has been associated with all the major epidermolysis bullosa subtypes. This disease affects 1 in 10, 000 live births; only 500 cases have been described in medical literature. It is characterized by affecting a lower limb with an S-shaped pattern and presenting epidermolysis bullosa lesions in any other part of the body. We present a female neonate with the aforementioned clinical features, who was hospitalized in the Neonatology service at "José Luis Miranda" Pediatric University Hospital. This diagnosis is mainly clinical and is based on evidence of areas of skin loss predominantly on the lower limbs, bullous lesions on the skin and mucous membranes and nail deformities. Its prognosis can be fatal. This case is of great interest due to its low incidence; its early diagnosis helped to avoid complications.

Aspects of skin morphology and morphometry of the giant anteater (Myrmecophaga tridactyla, LINNAEUS, 1758) / spectos da morfologia e morfometria da pele do tamanduá bandeira (Myrmecophaga tridactyla, LINNAEUS, 1758)

The aim of the present study is to describe the skin morphology and morphometry of the giant anteater (M. tridactyla), based on comparative analysis applied to skin segments from central metacarpal torus (palmar pad), dorsal thorax, ventral cervical, ventral abdomen, medial carpal and nasal regions. In order to do so, eight adult specimens of M. tridactyla were used for macroscopic studies and four for microscopic assessments. Microscopy was used to assess fur general features that were macroscopically assessed through visual analysis. Fragments (2.0cm²) were collected from the selected regions for microscopic studies. Samples were fixed on McDowell solution, processed through routine histology techniques and subjected to semi-serial cuts (5 µm). The cuts were stained in HE, Alcian blue and periodic acid Schiff. General morphology of different skin layers was described, as well as their architecture and composition; mesoscopy of the epidermis, dermis and stratum corneum was also carried out. There was difference in skin morphometry between males and females, and between different skin regions in the same animal, based on the statistical evaluation of the recorded values. All epidermis layers were assessed for the selected regions. Dermis encompassed surface and deep layers; it presented sweat and sebaceous glands, as well as hair follicles. Findings also allowed reporting that epidermis components are easily identified given its thickness, and the large amount of sweat glands in it ­ it contrasts its physiological features.(AU)

O objetivo deste estudo foi descrever a morfologia e morfometria da pele do Tamanduá-bandeira (M. tridactyla), mediante a análise comparativa de segmentos cutâneos das regiões central do toro metacarpal (coxim palmar), dorsal do tórax, cervical ventral, ventral do abdome, medial do carpo e nasal. Para tanto, foram utilizados oito exemplares adultos de M. tri-dactyla para o estudo macroscópico, e quatro destes para o estudo microscópico. Macroscopicamente estudou-se, por meio de análise visual, as características gerais do pelo e pelagem. Para o estudo microscópico, foram coletados fragmentos de 2,0 cm2 das áreas selecionadas. As amostras foram fixadas em solução de McDowell, processadas pelas técnicas rotineiras de his-tologia e submetidas a cortes semi-seriados de 5 µm. Os cortes foram corados com HE, azul de Alcian e ácido periódico de Schiff. Descreveu-se a morfologia geral, a arquitetura e a composição das diferentes camadas da pele e ainda realizou-se a mesoscopia da epiderme, derme e estrato córneo. De acordo com a avaliação estatística dos valores obtidos, houve diferença na morfometria cutânea entre machos e fêmeas, e entre as diferentes regiões cutâneas de um mesmo animal. Nas regiões estu-dadas observou-se todas as camadas da epiderme. A derme compôs-se das camadas superficial e profunda, apresentado glân-dulas sudoríferas e sebáceas e folículos pilosos. Dentre os achados também pode-se relatar que os componentes da epiderme são facilmente identificáveis pela sua maior espessura, além da grande quantidade de glândulas sudoríferas presentes, o que contrasta com suas características fisiológicas.(AU)

Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.

Adams-Oliver syndrome (AOS) is diagnosed in presence of aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). The autosomal recessive (AR) DOCK6-related form of AOS is most often associated with a severe phenotype including also central nervous system and ocular abnormalities. We report a sister and brother with different expression of the phenotype. Both were compound heterozygous pathogenic variants in the DOCK6 gene, including a heterozygous c.5939+2T > C intronic variant that was maternally inherited, and a heterozygous deletion of exons 10 to 21 that was paternally inherited. The sister had microcephaly, periventricular calcifications, minor retinal vasculopathy, and mild impaired neurodevelopment, but only very subtle limb abnormalities and no ACC. Her brother showed a classical DOCK6-related AOS phenotype, including a severe bilateral peripheral ischemic retinopathy. From a review of 22 molecularly confirmed cases with DOCK6-related AOS with ophthalmic examination, we found that 16 of them had retinal vascular pathology (72.7%), confirming as the major ocular anomaly. Documented intrafamilial variability in our family and the evidence revised from previous reports, confirm that AR DOCK6-related AOS expressivity can produce a "milder" phenotype without ACC or TTLD, which could be underdiagnosed in simplex cases because it is difficult to recognize out of a familial context. Therefore, in order to know its real magnitude is required the future inclusion of DOCK6 gene in NGS panels directed to the study of simplex cases of patients with microcephaly, periventricular calcifications, retinal vasculopathy, and/or cardiovascular defects.

Cutis verticis gyrata. Presentación de un caso y revisión de la literatura

RESUMEN La cutis verticis gyrata es una patología poco frecuente del cuero cabelludo caracterizada por la proliferación del tejido celular subcutáneo e hipertrofia que produce pliegues y surcos que le dan aspecto cerebriforme. Aunque su etiología es aún desconocida, la condición no es exclusivamente congénita, se ha propuesto como teoría la presencia de mutaciones autosómicas dominantes en el receptor de factor de crecimiento de fibroblastos 2. Esta patología es extremadamente rara en pediatría. Se divide en primaria y secundaria. Se presenta el caso de un adolescente de 15 años, de sexo masculino con presencia de cutis verticis gyrata primaria esencial, donde la principal preocupación fue el prurito y la presencia de fetidez. Teniendo en cuenta el carácter benigno de esta condición, se decidió solo manejo sintomático. El caso que se presenta es el primero reportado en la provincia Cienfuegos en edad pediátrica, lo que reafirma la importancia de reconocer esta entidad y su abordaje adecuado para distinguir las formas clínicas de presentación para su mejor tratamiento terapéutico. Dada la rareza de la entidad en edad pediátrica se decide presentar este caso, además de una revisión de la literatura.

ABSTRACT Cutis verticis gyrata is a rare pathology of the scalp characterized by the proliferation of subcutaneous cellular tissue and hypertrophy that produces folds and furrows that give it a cerebriform appearance. Although its etiology is still unknown, the condition is not exclusively congenital, the presence of autosomal dominant mutations in the fibroblast growth factor receptor 2 has been proposed as a theory. This pathology is extremely rare in pediatrics. It is divided into primary and secondary. The case of a 15-year-old male adolescent with the presence of essential primary cutis verticis gyrata, where the main concern was pruritus and the presence of fetidity is presented. Taking into account the benign nature of this condition, only symptomatic management was decided. The case presented is the first reported in Cienfuegos province in pediatric age, which reaffirms the importance of recognizing this entity and its adequate approach to distinguish the clinical forms of presentation for its best therapeutic treatment. Once the oddity of the entity in pediatric age was given this case, in addition to a revision of literature decides to show up.

Calcinosis escrotal idiopática: Reporte de un caso / Idiopathic scrotal calcinosis. A case report

Resumen El calcio participa en muchos procesos fisiológicos. La calcinosis cutis es una enfermedad de depósito de calcio en la dermis. La calcicosis escrotal idiopática (CEI) es una forma común de calcinosis cutis idiopática. Se presenta el caso de un paciente masculino de 28 años de edad, con clínica de masas múltiples en escroto, de color blanco, tamaños variados, no dolorosas. Los niveles de calcio y fósforo se mostraron dentro de los rangos normales, característico de calcinosis de tipo idiopática, mientras que la vitamina D y la PTH se mostraron fuera de los límites normales. Se realiza una cirugía menor de las lesiones nodulares circunscritas, de diversos tamaños y de bordes regulares. El examen histológico post-biopsia confirmó el diagnóstico de calcinosis cutis. Se prescribió una dieta baja en calcio como método preventivo a largo plazo. A pesar de lo infrecuente de esta condición debe tenerse en cuenta al realizar un diagnóstico diferencial. Su etiología es aún desconocida y puede presentarse de manera asintomática. Lo importante es brindar al paciente una mejor calidad de vida, evitar incomodidades y baja autoestima debido al aspecto estético.

Abstract Calcium participates in many physiological processes. Calcinosis cutis is a disease caused by calcium deposition in the dermis. Idiopathic scrotal calcinosis (ICS) is a common form of idiopathic calcinosis cutis. A 28-year-old male patient was evaluated, with symptoms of multiple white masses in the scrotum, of various sizes, not painful. Calcium and phosphorus levels were within normal ranges, characteristic of idiopathic calcinosis, while vitamin D and PTH were outside the normal limits. Minor surgery was performed on circumscribed nodular lesions of various sizes with regular borders. Post-biopsy histological examination confirmed the diagnosis of calcinosis cutis. A low-calcium diet was prescribed as a long-term preventive method. Despite the infrequency of this condition, it should be taken into account when making a differential diagnosis. Its etiology is still unknown and it can present asymptomatically. The important thing is to provide the patient with a better quality of life, avoid discomfort and low self-esteem due to the aesthetic aspect.

Ultrasonography of cutaneous nodular pseudolymphoma at 18 and 71 MHz.

Cutaneous pseudolymphomas are reactive lymphoproliferations. The most frequent type is nodular pseudolymphoma, and to date, their ultrasonographic appearance has not been reported. We reviewed the ultrasound images of histologically confirmed nodular types of pseudolymphomas studied with 18 and 71 MHz linear probes. All lesions were predominantly hypoechoic and presented prominent vascularity. Seventy percent of cases involved dermis and hypodermis, and 30% were only dermal. Seventy percent of cases showed internal hypoechoic globules, and 100% presented a teardrop sign, more clearly detected at 71 MHz. Ultrasound can support the diagnosis, assessment of the extent, and degree of vascularity of cutaneous nodular pseudolymphomas.

Efeitos do microagulhamento associado a radiofrequência no tratamento de flacidez abdominal em mulheres: Estudo experimental / Effects of microneedling associated radiofrequency in the treatment of abdominal sagging in women: Experimental study

A flacidez tissular abdominal é uma disfunção dermatológica que incomoda principalmente as mulheres. A radiofrequência e o microagulhamento são recursos utilizados para minimizar essa flacidez. Objetivo: Investigar os efeitos do microagulhamento associado a radiofrequência na flacidez tissular abdominal. Métodos: Trata-se de um estudo experimental, controlado e randomizado, com amostra de 20 mulheres, faixa etária entre 18 e 35 anos, dispostas em dois grupos: Grupo 1 (G1) foi aplicada 1 sessão de microagulhamento, após 15 dias reavaliação utilizando a plicometria e perimetria e Grupo 2 (G2) 1 sessão de microagulhamento, após 15 dias realizaram-se 4 sessões de radiofrequência com intervalo de 1 dia entre as sessões. Resultados: O G2 apresentou diminuição de flacidez do músculo reto abdominal direito apresentando p = 0,009, flanco direito p = 0,001 e flanco esquerdo p = 0,004, assim como a redução da circunferência abdominal. A avaliação de satisfação corporal do G2 teve escore final p = 0,029. Conclusão: O microagulhamento associado a radiofrequência promoveram uma melhora clínica da flacidez tissular abdominal e flancos. (AU)

Leukemia cutis and other dermatological findings in pediatric patients with acute myeloid leukemia / Leucemia cutis y otras manifestaciones dermatológicas en pacientes pediátricos con leucemia mieloide aguda

Abstract Background: Leukemia cutis (LC) is the infiltration of neoplastic leukocytes into the skin, causing skin lesions. In children, it appears more frequently in patients with acute myeloblastic leukemia (AML), particularly in subtypes with a monocytic component. Methods: We studied a retrospective cohort including all AML cases from the Hospital Infantil de México Federico Gómez between January 2009 to December 2019 and described the clinical characteristics of those who presented LC and other mucocutaneous manifestations. The information was collected from clinical records and analyzed using SPSS software (version 17). Results: We identified 54 AML cases: 53.7% were males, and 75.9% of the patients presented at least one dermatosis in the course of the disease. LC was clinically present in 14.8% of patients and was histologically confirmed in 9.2% of them; two congenital leukemia cases were identified. Among these patients, LC was more frequent in males. LC patients were younger than those without LC, the most frequent AML subtype was M2 (37.5%), and the most frequent clinical manifestations were plaques, chloromas, and gingival hyperplasia. None of the patients presented LC before AML diagnosis. Conclusions: Currently, only a few studies about LC on pediatric populations have been reported, and the existing ones have small sample sizes. We found clinical and epidemiological similarities with other populations in the studied sample.

Resumen Introducción: La leucemia cutis (LC) es la infiltración de leucocitos neoplásicos a la piel que provoca lesiones cutáneas. En la población infantil aparece con más frecuencia en pacientes con leucemia mieloblástica aguda (LMA), principalmente en los subtipos con componente monocítico. Métodos: Se estudió una cohorte retrospectiva en el Hospital Infantil de México Federico Gómez entre enero de 2009 y diciembre de 2019 para conocer las características clínicas de los pacientes con LMA que cursaron con LC y otras manifestaciones mucocutáneas. La información se recabó de los expedientes clínicos y se analizó con el programa estadístico SPSS versión 17. Resultados: Se identificaron 54 casos de LMA: el 53.7% en el sexo masculino y el 46.3% en el sexo femenino. El 75.9% de los pacientes presentaron alguna dermatosis durante el curso de su enfermedad. La LC se presentó clínicamente en el 14.8% de los pacientes y se confirmó histológicamente en el 9.2% de ellos; dos casos correspondieron a leucemia congénita. De estos pacientes, la LC fue más frecuente en el sexo masculino, los pacientes fueron más jóvenes que el grupo sin LC, el subtipo de LMA más frecuente fue el M2 (37.5%) y las principales manifestaciones clínicas fueron placas infiltradas, cloromas e hiperplasia gingival. Ninguno de los pacientes presentó LC antes del diagnóstico de LMA. Conclusiones: Hasta ahora existen pocos estudios de LC en las diferentes variedades de leucemia en la población infantil, y los existentes cuentan con un tamaño de muestra pequeño. En este estudio se reportan estadísticas descriptivas y se encuentran similitudes clínico-epidemiológicas con otras poblaciones.

Leukemia cutis and other dermatological findings in pediatric patients with acute myeloid leukemia.

Background: Leukemia cutis (LC) is the infiltration of neoplastic leukocytes into the skin, causing skin lesions. In children, it appears more frequently in patients with acute myeloblastic leukemia (AML), particularly in subtypes with a monocytic component. Methods: We studied a retrospective cohort including all AML cases from the Hospital Infantil de México Federico Gómez between January 2009 to December 2019 and described the clinical characteristics of those who presented LC and other mucocutaneous manifestations. The information was collected from clinical records and analyzed using SPSS software (version 17). Results: We identified 54 AML cases: 53.7% were males, and 75.9% of the patients presented at least one dermatosis in the course of the disease. LC was clinically present in 14.8% of patients and was histologically confirmed in 9.2% of them; two congenital leukemia cases were identified. Among these patients, LC was more frequent in males. LC patients were younger than those without LC, the most frequent AML subtype was M2 (37.5%), and the most frequent clinical manifestations were plaques, chloromas, and gingival hyperplasia. None of the patients presented LC before AML diagnosis. Conclusions: Currently, only a few studies about LC on pediatric populations have been reported, and the existing ones have small sample sizes. We found clinical and epidemiological similarities with other populations in the studied sample.

Introducción: La leucemia cutis (LC) es la infiltración de leucocitos neoplásicos a la piel que provoca lesiones cutáneas. En la población infantil aparece con más frecuencia en pacientes con leucemia mieloblástica aguda (LMA), principalmente en los subtipos con componente monocítico. Métodos: Se estudió una cohorte retrospectiva en el Hospital Infantil de México Federico Gómez entre enero de 2009 y diciembre de 2019 para conocer las características clínicas de los pacientes con LMA que cursaron con LC y otras manifestaciones mucocutáneas. La información se recabó de los expedientes clínicos y se analizó con el programa estadístico SPSS versión 17. Resultados: Se identificaron 54 casos de LMA: el 53.7% en el sexo masculino y el 46.3% en el sexo femenino. El 75.9% de los pacientes presentaron alguna dermatosis durante el curso de su enfermedad. La LC se presentó clínicamente en el 14.8% de los pacientes y se confirmó histológicamente en el 9.2% de ellos; dos casos correspondieron a leucemia congénita. De estos pacientes, la LC fue más frecuente en el sexo masculino, los pacientes fueron más jóvenes que el grupo sin LC, el subtipo de LMA más frecuente fue el M2 (37.5%) y las principales manifestaciones clínicas fueron placas infiltradas, cloromas e hiperplasia gingival. Ninguno de los pacientes presentó LC antes del diagnóstico de LMA. Conclusiones: Hasta ahora existen pocos estudios de LC en las diferentes variedades de leucemia en la población infantil, y los existentes cuentan con un tamaño de muestra pequeño. En este estudio se reportan estadísticas descriptivas y se encuentran similitudes clínico-epidemiológicas con otras poblaciones.

A novel conjunctive microenvironment derived from human subcutaneous adipose tissue contributes to physiology of its superficial layer.

BACKGROUND: In human subcutaneous adipose tissue, the superficial fascia distinguishes superficial and deep microenvironments showing extensions called retinacula cutis. The superficial subcutaneous adipose tissue has been described as hyperplastic and the deep subcutaneous adipose tissue as inflammatory. However, few studies have described stromal-vascular fraction (SVF) content and adipose-derived stromal/stem cells (ASCs) behavior derived from superficial and deep subcutaneous adipose tissue. In this study, we analyzed a third conjunctive microenvironment: the retinacula cutis superficialis derived from superficial subcutaneous adipose tissue. METHODS: The samples of abdominal human subcutaneous adipose tissue were obtained during plastic aesthetic surgery in France (Declaration DC-2008-162) and Brazil (Protocol 145/09). RESULTS: The SVF content was characterized in situ by immunofluorescence and ex vivo by flow cytometry revealing a high content of pre-adipocytes rather in superficial subcutaneous adipose tissue microenvironment. Adipogenic assays revealed higher percentage of lipid accumulation area in ASCs from superficial subcutaneous adipose tissue compared with retinacula cutis superficialis (p < 0.0001) and deep subcutaneous adipose tissue (p < 0.0001). The high adipogenic potential of superficial subcutaneous adipose tissue was corroborated by an up-regulation of adipocyte fatty acid-binding protein (FABP4) compared with retinacula cutis superficialis (p < 0.0001) and deep subcutaneous adipose tissue (p < 0.0001) and of C/EBPα (CCAAT/enhancer-binding protein alpha) compared with retinacula cutis superficialis (p < 0.0001) and deep subcutaneous adipose tissue (p < 0.0001) microenvironments. Curiously, ASCs from retinacula cutis superficialis showed a higher level of adiponectin receptor gene compared with superficial subcutaneous adipose tissue (p = 0.0409), widely known as an anti-inflammatory hormone. Non-induced ASCs from retinacula cutis superficialis showed higher secretion of human vascular endothelial growth factor (VEGF), compared with superficial (p = 0.0485) and deep (p = 0.0112) subcutaneous adipose tissue and with adipogenic-induced ASCs from superficial (p = 0.0175) and deep (p = 0.0328) subcutaneous adipose tissue. Furthermore, ASCs from retinacula cutis superficialis showed higher secretion of Chemokine (C-C motif) ligand 5 (CCL5) compared with non-induced (p = 0.0029) and induced (p = 0.0089) superficial subcutaneous adipose tissue. CONCLUSIONS: This study highlights the contribution to ASCs from retinacula cutis superficialis in their angiogenic property previously described for the whole superficial subcutaneous adipose tissue besides supporting its adipogenic potential for superficial subcutaneous adipose tissue.

A case of tuberculosis verrucosa cutis in Brazil undiagnosed for 15 years.

Tuberculosis verrucosa cutis is a rare medical condition that is caused by the inoculation of Mycobacterium tuberculosis into the skin of a previously sensitized individual. This clinical form of tuberculosis corresponds to 1-2% of all cases of tuberculosis and due to the paucibacillary characteristic of the lesions, patients can be misdiagnosed, accounting for the chronification of the skin infection. Herein, we report the case of a 26-year-old male farmer, presenting plaques with verrucosa and hyperkeratosis features in the left thigh and buttocks during 15 years. M. tuberculosis was identified by PCR and the patient was treated with standard anti-tuberculosis drugs, with subsequent improvement of the skin lesions.

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype-phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB simplex, EBS; 23 junctional EB, JEB; and 99 dystrophic EB, DEB), associated with 132 pathogenic variants in eight genes, were included in the genotype-phenotype analysis. In EBS, CAS showed to be a recurrent clinical sign in EBS with pyloric atresia (PA) and EBS associated with kelch-like protein 24; CAS was also described in patients with keratins 5/14 alterations, particularly involving severe phenotypes. In JEB, this is a common clinical sign in JEB with PA associated with premature termination codon variants and/or amino acid substitutions located in the extracellular domain of integrin α6ß4 genes. In DEB with CAS, missense variants occurring close to non-collagenous interruptions of the triple-helix domain of collagen VII appear to influence this condition. This study is the largest review of patients with EB and CAS and expands the spectrum of known variants on this phenomenon.