ABSTRACT
Neonatal cholestasis is a clinical metabolic alteration requiring investigation of its eitiology. It is characterized by elevation of liver enzymes with cholestasis pattern and, in some cases, with acute liver failure. Its etiology is variable although the most frequent cause is atresia of extrahepatic bile ducts. We present a case of a 23-month-old boy who presented with cholestasis and was finally diagnosed with systemic Langerhans cell histiocytosis.
Subject(s)
Histiocytosis, Langerhans-Cell , Langerhans Cells , Child, Preschool , Fibrosis , Histiocytosis, Langerhans-Cell/complications , Humans , Infant , Infant, Newborn , Liver/pathology , MaleABSTRACT
La colestasis neonatal es una situación clinicoanalítica que requiere una determinación urgente de su etiología. Se caracteriza por elevación de enzimas hepáticas con patrón de colestasis y en algunos casos con situación de fallo hepático agudo. Su etiología es variable aunque la causa más frecuente es la atresia de vías biliares extrahepáticas. En el presente caso describimos el caso de un niño de 23 meses de vida que presentó comienzo colestásico y que finalmente fue diagnosticado de histiocitosis de células de Langerhans sistémica.(AU)
Neonatal cholestasis is a clinical metabolic alteration requiring investigation of its eitiology. It is characterized by elevation of liver enzymes with cholestasis pattern and, in some cases, with acute liver failure. Its etiology is variable although the most frequent cause is atresia of extrahepatic bile ducts. We present a case of a 23-month-old boy who presented with cholestasis and was finally diagnosed with systemic Langerhans cell histiocytosis.(AU)
Subject(s)
Humans , Male , Infant , Fibrosis , Cholestasis , Langerhans Cells , Histiocytosis, Langerhans-Cell , Biliary Atresia , Liver Failure, AcuteABSTRACT
No disponible
Subject(s)
Humans , Female , Infant , Lupus Erythematosus, Systemic/congenital , Lupus Erythematosus, Systemic/pathology , Lupus Erythematosus, Systemic/immunologyABSTRACT
Folliculocystic and collagenous hamartoma (FCCH) is a rare cutaneous manifestation characterized by the presence of single plaques studded with comedo-like openings and cysts. Although its pathophysiology is still unknown, it has generally been described in men with tuberous sclerosis complex (TSC). We report a case of a one-year-old child with two FCCH in the abdominal wall associated with TSC. In our case, a TSC2 mutation was identified.
Subject(s)
Cysts , Hamartoma , Nevus , Tuberous Sclerosis , Child , Hamartoma/diagnosis , Humans , Infant , Male , Tuberous Sclerosis/complications , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis Complex 2 ProteinABSTRACT
Importance: A novel coronavirus named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has recently been identified as the cause of a pandemic called coronavirus disease 2019 (COVID-19). In this context, some associated skin diseases have been described. Cutaneous lesions referred to as acute acro-ischemia have been reported as a possible sign of COVID-19 in adolescents and children. Objective: To evaluate the pathogenesis of these newly described acute acral lesions. Design, Setting, and Participants: This prospective case series was conducted at La Fe University Hospital, a tertiary referral hospital in Valencia, Spain, between April 9 and April 15, 2020. Among 32 referred patients, 20 children and adolescents with new-onset inflammatory lesions did not have a diagnosis. Exposures: Patients were not exposed to any drug or other intervention. Main Outcomes and Measures: We performed reverse transcriptase-polymerase chain reaction for SARS-CoV-2 and a range of blood tests for possible origins of the lesions. Skin biopsies were performed in 6 patients. Results: Of the 20 patients enrolled, 7 were female and 13 were male, with an age range of 1 to 18 years. Clinical findings fit into the following patterns: acral erythema (6 patients), dactylitis (4 patients), purpuric maculopapules (7 patients), and a mixed pattern (3 patients). None of the patients had remarkable hematologic or serologic abnormalities, including negative antibodies to SARS-CoV-2. Biopsies performed in 6 patients showed histologic findings characteristic of perniosis. Conclusions and Relevance: The clinical, histologic, and laboratory test results were compatible with a diagnosis of perniosis, and no evidence was found to support the implication of SARS-CoV-2 infection.
Subject(s)
Clinical Laboratory Techniques , Coronavirus Infections/diagnosis , Pneumonia, Viral/diagnosis , Skin Diseases/diagnosis , Adolescent , Biopsy , COVID-19 , COVID-19 Testing , Child , Child, Preschool , Female , Humans , Infant , Male , Pandemics , Prospective Studies , Reverse Transcriptase Polymerase Chain Reaction , Skin Diseases/pathology , SpainABSTRACT
No disponible
Subject(s)
Humans , Male , Child , Mycobacterium marinum/isolation & purification , Mycobacterium Infections, Nontuberculous/complications , Mycobacterium Infections, Nontuberculous/diagnosis , Knee/microbiology , Granuloma/microbiology , Mycobacterium Infections, Nontuberculous/drug therapyABSTRACT
No disponible
Subject(s)
Humans , Male , Child, Preschool , Livedo Reticularis/diagnostic imaging , Livedo Reticularis/drug therapy , Necrosis/complications , Vasculitis/diagnosis , Biopsy , Systemic Vasculitis/diagnostic imaging , Erythema/drug therapy , Skin/diagnostic imaging , Skin/injuries , Erythema/diagnostic imaging , Radiography, Thoracic/methods , Antibodies, Antineutrophil Cytoplasmic/analysis , Cyclophosphamide/therapeutic use , Diagnosis, Differential , Systemic Vasculitis/drug therapySubject(s)
Polyarteritis Nodosa/diagnosis , Child, Preschool , Humans , Male , Polyarteritis Nodosa/pathologyABSTRACT
No disponible
Subject(s)
Humans , Male , Infant , Infant, Premature, Diseases/diagnosis , Blister/etiology , Erythema/diagnosis , Acrodermatitis/diagnosis , Zinc Deficiency , Skin/injuries , Acrodermatitis/drug therapy , Zinc/therapeutic useABSTRACT
El histiocitoma fibroso angiomatoide es un tumor de tejidos blandos poco frecuente y con un potencial bajo de malignidad; puede simular una neoplasia de origen vascular y suele afectar las extremidades de niños y adultos jóvenes. Inicialmente fue descrito como una variante maligna del histiocitoma fibroso, planteándose su origen histiocitario, aunque su histogénesis aún es desconocida. La morfología característica es la de una lesión bien circunscrita, con formación de nidos compuestos por células fusiformes a ovales, con un infiltrado inflamatorio periférico, cavidades quísticas y expresión variable de desmina, EMA, CD68 y CD99. Citogenéticamente existen 3 translocaciones t (12:16) (q13:p11), t (12:22) (q13:q12) y t (2:22) (q33:q12), las cuales no son específicas pero sí útiles con una adecuada correlación clinicopatológica. Presentamos 2 casos de 2 niños de 4 y 14 años con una masa quística en el antebrazo y en la cara posterior del muslo, respectivamente (AU)
Angiomatoid fibrous histiocytoma is an uncommon soft tissue tumour of low-grade malignancy found in the limbs of children and young adults. Due to its rarity, it may be misdiagnosed as a reactive lesion or a vascular neoplasm. Initially described as a type of malignant fibrous histiocytoma, suggesting a histiocytic origin although its histogenesis still unknown. Morphologically, it is a well circumscribed lesion with sheets of bland spindle to ovoid cells, peripheral lymphoplasmacytic infiltrate and blood-filled cystic cavities. Half the cases have a strong desmin expression. Cytogenetically, three translocations are found: t (12:16) (q13:p11), t (12:22) (q13:q12) and t (2:22) (q33:q12) that, although nonspecific, are useful when correlated with clinico-pathological data. We describe two cases found in a 4 year old child and a 14 year old adolescent presenting with an enlarging cystic mass in the arm and in the posterior aspect of the thigh respectively (AU)
