ABSTRACT
Angiokeratoma corporis diffusum [ACD] is a rare clinical type of angiokeratoma and has been reported, mostly, in association with various life threatening conditions, of which Fabry disease is the most known. Rarely, it has been reported as an isolated finding without any systemic features. A 23-year-old male presented with numerous red papules of various sizes with a history of intermittent bleeding. Histopathology findings were consistent with angiokeratoma and our case was diagnosed as ACD. We herein present a case of cutaneous variant of ACD without any associated systemic associations. Also, the conditions associated with ACD have been briefly discussed.
Subject(s)
Humans , Male , Skin/pathology , Angiokeratoma , Dilatation, Pathologic , Aspartylglucosaminuria , FucosidosisABSTRACT
Los angioqueratomas son lesiones vasculares relativamente infrecuentes que consisten en pápulas hiperqueratósicas rojo-violáceas. Éstas pueden ser únicas o múltiples, estar localizadas en un único segmento corporal o ser generalizadas y estar o no asociadas a otras enfermedades subyacentes. El presente trabajo abordará en profundidad los angioqueratomas generalizados complementando la primera parte en la que se trataron los angioqueratomas localizados.
Angiokeratomas are a relatively non-frequent group of vascular lesions that consist on hyperkeratotic red-violaceous papules. Lesions can be solitary or multiple, localized or generalized and may be associated or not with a systemic disease. The present work is a throughout review on generalized angiokeratomas and it is a complement of the first part in which localized angiokeratomas have been discussed.
Subject(s)
Humans , alpha-Mannosidosis , Angiokeratoma , Aspartylglucosylaminase , beta-Galactosidase , beta-Mannosidosis , Fabry Disease , Fucosidosis , Lysosomal Storage Diseases, Nervous System , Diagnosis, DifferentialABSTRACT
The term dysostosis multiplex is specifically applied to the group of radiological features collectively found in a number of specific metabolic disorders including the mucopolysaccharidoses, mucolipidosis, mannosidosis, fucosidosis and several other rarer conditions. We report eight cases of mannosidosis, fucosidosis and mucolipidosis with special emphasis on the differentiation from the more common mucopolysaccharidoses.
Subject(s)
Child , Child, Preschool , Diagnosis, Differential , Dysostoses/diagnostic imaging , Female , Fucosidosis/classification , Humans , Infant , Lysosomal Storage Diseases/diagnosis , Male , Mucolipidoses/classification , Mucopolysaccharidoses/diagnosis , alpha-Mannosidosis/classificationABSTRACT
Se describen 3 pacientes: 2 del sexo masculino y 1 del femenino, con enfermedad por almacenamiento lisosomal del tipo fucosidosis. En los 3 casos existió el antecedente de retardo psicomotor y posteriormente se hizo evidente el deterioro progresivo de las capacidades psíquicas motoras adquiridas. Todos tenían facies toscas, retardo mental profundo y alteraciones morfológicas en vértebras lumbares. Desde el punto de vista bioquímico, los 3 pacientes presentaron excreción urinaria de oligisacáridos ricos en fucosa, así como disminución de la actividad de la enzima alfa-L-fucosidasa en leucocitos. Se hace énfasis en la demostración del defecto enzimático como único criterio diagnóstico confirmatorio