Lupus eritematoso sistémico asociado a anetodermia / Systemic lupus erythematosus associated with anetoderma

RESUMEN La anetodermia primaria es una dermatosis de baja frecuencia, crónica, la cual se caracteriza por pérdida de fibras elásticas. En algunas ocasiones se ha observado en pacientes con enfermedades autoinmunes, entre ellas el lupus eritematoso sistémico (LES). Presentamos un caso de LES asociado a anetodermia, en una paciente de sexo femenino, de 19 años de edad.

ABSTRACT Primary anetoderma is an infrequent skin disease that has sometimes been observed in patients with autoimmune diseases such as systemic lupus erythematosus. We present a case of systemic lupus erythematosus associated with anetoderma, in a 19-year-oldfemale patient.

Evolución del estudio de las manifestaciones bucomaxilofaciales del lupus eritematoso sistémico / Evolution of the study of bucomaxilofacial manifestations of Systemic Lupus Erythematosus

El lupus eritematoso sistémico provoca manifestaciones bucomaxilofaciales. Debido a su variabilidad, se torna complejo para el odontólogo evaluar a los pacientes que lo padecen, además de la escasa evidencia científica en cuanto al manejo en la cavidad bucal, que hacen difícil su identificación y diagnóstico. El propósito de la presente investigación es caracterizar la evolución histórica del estudio de las lesiones bucomaxilofaciales del lupus eritematoso sistémico, mediante una exhaustiva revisión bibliográfica y el empleo de descriptores en inglés y español. Esta enfermedad tiene consecuencias en la cavidad bucal, pero las lesiones pueden presentarse asintomáticas, por lo que el diagnóstico depende de identificar las lesiones. El estudio de las manifestaciones bucomaxilofaciales en esta enfermedad ha venido evolucionando lentamente con el transcurso del tiempo, pero aún no es suficiente, a pesar de los adelantos de la ciencia y la técnica(AU)

Systemic Lupus Erythematosus in its development causes bucomaxilofacial manifestations. Given its variability, it becomes complex for the dentist when evaluating patients who suffer from it, due to the poor synthesis of evidence, based on its management in the oral cavity, from its identification and diagnosis. This led to the realization of this research, with the purpose of characterizing the historical evolution of the study process on bucomaxilofacial lesions, through an exhaustive literature review using different descriptors in English and Spanish. As a result, it was observed that this disease has consequences in the oral cavity, the lesions may appear asymptomatic and their presence is decisive for the diagnosis. Concluding that the study of bucomaxilofacial manifestations in Systemic Lupus Erythematosus has been evolving over time, but it is still not enough, and even more so with the advances in science and technology(AU)

Collagenofibrotic glomerulopathy – A rare disease diagnosed with the aid of transmission electron microscopy

Collagenofibrotic glomerulopathy (CFG) is a rare idiopathic kidney disease characterized by abnormal deposition of atypical Type III collagen fibers in the glomerulus causing subendothelial and mesangial expansion, manifesting as progressive renal dysfunction accompanied by proteinuria. The majority of CFG cases reported in literature are from Japan where this disease entity was initially recognized. There is an increased awareness and diagnosis of this rare renal disease in India with the recent increase in utilization of electron microscopy (EM) in clinical diagnostic settings. We describe a 28-year-old Bangladeshi woman who presented with hypertension and nephrotic range proteinuria not amenable to treatment with steroids and cyclophosphamide, whose renal biopsy demonstrated diagnostic ultrastructural features of CFG. This illustrative case is presented to highlight the role of EM analysis for diagnostic accuracy in renal biopsy evaluation in addition to demonstrating the unusual renal biopsy findings of this rare entity.

A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.

A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.