Subject(s)
22q11 Deletion Syndrome/complications , 22q11 Deletion Syndrome/genetics , Mycobacterium Infections/etiology , Biopsy , Bone Marrow/pathology , Child , Chromosome Deletion , Humans , Male , Mycobacterium Infections/diagnosis , Mycobacterium Infections/prevention & control , Mycobacterium bovis/immunology , Positron Emission Tomography Computed TomographyABSTRACT
Introducción: La morfea o esclerodermia localizada juvenil (ELJ) es una enfermedad autoinmune, inflamatoria, crónica, lenta y progresiva del tejido conectivo, de causa desconocida, que afecta preferentemente la piel y los tejidos subyacentes. Objetivos: Comunicar un caso de esclerodermia localizada juvenil en una escolar, y contribuir a un diagnóstico y tratamiento oportuno de esta patología. Caso clínico: Niña de 8 años con placas induradas hipopigmentadas, de distribución lineal en la extremidad superior derecha de 2 años de evolución y placas induradas hiperpigmentadas de textura acartonada, con áreas de piel adelgazada, blanquecina y edema en la pierna y el tobillo. Los elementos clínicos y los exámenes de apoyo diagnóstico, incluyendo la histología, fueron compatibles con ELJ lineal, panesclerótica. Se inició tratamiento inmunosupresor y simultáneamente realizó fisioterapia y terapia ocupacional intensivas. Conclusiones: Presentamos un caso de ELJ de tipo lineal y panesclerótico, en el que hubo retraso de 2 años en el diagnóstico, no obstante la respuesta al tratamiento inmunosupresor fue favorable según lo esperado.
Introduction: Morphea or juvenile localised scleroderma (JLS) is an autoimmune, inflammatory, chronic, slowly progressive connective tissue disease of unknown cause that preferably affects skin and underlying tissues. Objective: To report a case of Juvenil Localised scleroderma in an 8-year old girl, contributing to an early diagnosis and treatment. Clinical case: The case is presented of an 8 year-old girl who presented with indurated hypopigmented plaques, of linear distribution in the right upper extremity of two years onset, together with papery texture hyperpigmented indurated plaques with whitish areas of thinned skin in right lower extremity, and leg and ankle swelling. The clinical features and diagnostic tests, including histology were compatible with linear and pansclerotic JLS. She started with immunosuppressive therapy, physiotherapy, and occupational therapy. Conclusions: We report a case of linear and pansclerotic ELJ type, in which there was a 2 year delay in diagnosis, however the response to treatment was positive as expected.
Subject(s)
Humans , Female , Child , Scleroderma, Localized/diagnosis , Occupational Therapy/methods , Physical Therapy Modalities , Immunosuppressive Agents/therapeutic use , Scleroderma, Localized/pathology , Scleroderma, Localized/therapy , Treatment Outcome , Disease Progression , Delayed DiagnosisABSTRACT
INTRODUCTION: Morphea or juvenile localised scleroderma (JLS) is an autoimmune, inflammatory, chronic, slowly progressive connective tissue disease of unknown cause that preferably affects skin and underlying tissues. OBJECTIVE: To report a case of Juvenil Localised scleroderma in an 8-year old girl, contributing to an early diagnosis and treatment. CLINICAL CASE: The case is presented of an 8 year-old girl who presented with indurated hypopigmented plaques, of linear distribution in the right upper extremity of two years onset, together with papery texture hyperpigmented indurated plaques with whitish areas of thinned skin in right lower extremity, and leg and ankle swelling. The clinical features and diagnostic tests, including histology were compatible with linear and pansclerotic JLS. She started with immunosuppressive therapy, physiotherapy, and occupational therapy. CONCLUSIONS: We report a case of linear and pansclerotic ELJ type, in which there was a 2 year delay in diagnosis, however the response to treatment was positive as expected.
Subject(s)
Immunosuppressive Agents/therapeutic use , Occupational Therapy/methods , Physical Therapy Modalities , Scleroderma, Localized/diagnosis , Child , Delayed Diagnosis , Disease Progression , Female , Humans , Scleroderma, Localized/pathology , Scleroderma, Localized/therapy , Treatment OutcomeABSTRACT
Leucocyte adhesion deficiency (LAD) is a group of rare autosomal recessive (<1:1 000 000 births) inherited disorders characterised by immune deficiency and peripheral neutrophilia. Three types of LAD syndrome have been distinguished. LAD type 1 (LAD-I) is the most common. It results from a mutation in the integrin ß 2 (ITGB2) gene that codes the ITGB subunit (CD18 antigen). Since 1970, it has been reported in more than 300 children worldwide. It is characterised by delayed separation of the umbilical cord, recurrent bacterial and fungal infections, defective wound healing, blood neutrophilia and a high mortality rate at an early age. We report the second fatal case of an infant with LAD-I diagnosed in Chile, with developmental delay associated with a congenital cytomegalovirus infection. CD18/CD11 expression was normal. Genetic analysis of CD18 revealed a homozygous mutation in ITGB2, viz.c.1835G>T; p.C612F, and led us to suspect a biological parent other than the legal father and, therefore, an unwanted social situation.
Subject(s)
CD18 Antigens/genetics , Cytomegalovirus Infections/genetics , Developmental Disabilities/genetics , Leukocyte-Adhesion Deficiency Syndrome/complications , Leukocyte-Adhesion Deficiency Syndrome/diagnosis , Chile , Female , Homozygote , Humans , Infant , Leukocyte-Adhesion Deficiency Syndrome/geneticsABSTRACT
BCG disease has been reported in primary and secondary immunodeficiency and as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Investigation of this syndrome has led to the identifications of a series of genetic, inherited defects in the IL-12/IFN-γ axis. MSMD-causing mutations have been found in seven autosomal and two X-linked genes. In these patients, local or disseminated vaccine BCG infections are common. We report a clinical series including two infants with left axillary adenitis ipsilateral to the site of neonatal BCG immunization; one of them member of a family with two previously reported cases and a single sporadic case. All of them were diagnosed sequentially in Puerto Montt, Chile. The aim of this report is to notify the first Chilean disseminated BCG patients without previous immunodeficiency, in whom it was possible to identify an underlying immunodeficiency, although specific tests for IL-12/IFN-γ axis was no performed in our country. Clinical suspicion and international collaboration permitted to confirm IL12-Rß1 deficiency in 2 of 3 familial cases and a sporadic case.
Subject(s)
BCG Vaccine/adverse effects , Genetic Predisposition to Disease , Mycobacterium Infections, Nontuberculous/genetics , Receptors, Interleukin-12/deficiency , Receptors, Interleukin-12/genetics , Age of Onset , Child , Child, Preschool , Female , Humans , Infant , Male , Mutation , Mycobacterium Infections, Nontuberculous/diagnosis , Pedigree , Young AdultABSTRACT
BCG disease has been reported in primary and secondary immunodeficiency and as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Investigation of this syndrome has led to the identifications of a series of genetic, inherited defects in the IL-12/IFN-γ axis. MSMD-causing mutations have been found in seven autosomal and two X-linked genes. In these patients, local or disseminated vaccine BCG infections are common. We report a clinical series including two infants with left axillary adenitis ipsilateral to the site of neonatal BCG immunization; one of them member of a family with two previously reported cases and a single sporadic case. All of them were diagnosed sequentially in Puerto Montt, Chile. The aim of this report is to notify the first Chilean disseminated BCG patients without previous immunodeficiency, in whom it was possible to identify an underlying immunodeficiency, although specific tests for IL-12/IFN-γ axis was no performed in our country. Clinical suspicion and international collaboration permitted to confirm IL12-Rβ1 deficiency in 2 of 3 familial cases and a sporadic case.
La enfermedad por el bacilo de Calmette-Guérin (BCG) ha sido reportada en relación a inmunodeficiencias primarias, secundarias y en el síndrome clínico denominado susceptibilidad mendeliana a enfermedades micobacterianas. La investigación de este síndrome ha llevado a la identificación de defectos en el eje interleuquina (IL)- 12/ interferón gamma (IL-12/IFN-γ), habiéndose identificado hasta hoy mutaciones en siete genes autosómicos y dos ligados al cromosoma X. En estos pacientes, las infecciones localizadas o generalizadas por BCG vacunal son comunes. Reportamos una serie clínica constituida por dos lactantes con adenomegalia axilar izquierda recurrente secundaria a vacunación BCG al nacer; uno de ellos integrante de una familia con dos casos reportados previamente y un caso aislado, diagnosticados consecutivamente en Puerto Montt, Chile, con el objetivo de notificar los primeros casos chilenos de diseminación BCG en niños sin inmunodeficiencia previa conocida, en los que se logró identificar la deficiencia inmune subyacente pese a no disponer en el país del estudio específico del eje (IL-12/IFN-γ). La sospecha diagnóstica y colaboración internacional permitieron identificar en dos de los tres casos familiares y en el caso aislado, la deficiencia del receptor β1 de IL 12 (IL12Rβ1).
