ABSTRACT
Plasminogen deficiency is a very rare multisystem entity that affects different tissues of the economy through the deposition of fibrin-rich pseudomembrane and determines a heterogeneous and diverse clinical presentation. It is transmitted in an autosomal recessive manner by mutations of the PLG gene on chromosome 6 and can be divided into hypoplasminogenemia or type I and dysplasminogenemia or type II, the latter not related to clinical pathology. Severe plasminogen deficiency has a prevalence of 1.6 individuals per million inhabitants and although it can be diagnosed in adulthood, the most severe symptoms are observed in infants and children. The most common form of onset is the so-called woody conjunctivitis, characterized by fibrin membranes that are deposited on the eyelids since childhood, causing exophytic lesions that affect vision. It can also affect other mucous membranes such as the gingival, respiratory, oropharyngeal, digestive and genital mucosa, among others. We present a rare case of severe plasminogen deficiency with conjunctivitis and woody cervicitis who was admitted with clinical acute abdominal symptoms, associated with a tumor mass due to pseudomembranous deposition in the ascending colon that simulated inflammatory bowel disease and resolved spontaneously.
La deficiencia de plasminógeno es una entidad multisistémica, muy infrecuente, que afecta diferentes tejidos de la economía mediante el depósito de pseudo membranas ricas en fibrina y que determina una presentación clínica heterogénea y diversa. Se transmite en forma autosómica recesiva por mutaciones del gen PLG del cromosoma 6 y se puede dividir en hipoplasminogenemia o tipo I y displasminogenemia o tipo II, esta última no relacionada con patología clínica. El déficit grave de plasminógeno tiene una prevalencia de 1.6 individuos por millón de habitantes y si bien puede diagnosticarse en edad adulta, los síntomas más graves se observan en lactantes y niños. La forma de inicio más común es la denominada conjuntivitis leñosa, caracterizada por membranas de fibrina que se depositan en los parpados desde la infancia, provocando lesiones exofíticas que afectan la visión. También puede afectar otras mucosas como la gingival, respiratoria, orofaríngea, digestiva y genital entre otros. Presentamos un raro caso de deficiencia grave de plasminógeno con conjuntivitis y cervicitis leñosa que ingresó con un cuadro de abdomen agudo clínico, asociado a una masa tumoral por depósito de pseudomembranas en el colon ascendente que simuló una enfermedad inflamatoria intestinal y que se resolvió espontáneamente.
Subject(s)
Coagulation Protein Disorders , Conjunctivitis , Child , Infant , Female , Humans , Plasminogen/genetics , Conjunctivitis/etiology , Coagulation Protein Disorders/complications , FibrinABSTRACT
Resumen La deficiencia de plasminógeno es una entidad multisistémica, muy infrecuente, que afecta diferentes tejidos de la economía mediante el depósito de pseu do membranas ricas en fibrina y que determina una presentación clínica heterogénea y diversa. Se trans mite en forma autosómica recesiva por mutaciones del gen PLG del cromosoma 6 y se puede dividir en hipoplasminogenemia o tipo I y displasminogenemia o tipo II, esta última no relacionada con patología clínica. El déficit grave de plasminógeno tiene una prevalencia de 1.6 individuos por millón de habitan tes y si bien puede diagnosticarse en edad adulta, los síntomas más graves se observan en lactantes y ni ños. La forma de inicio más común es la denominada conjuntivitis leñosa, caracterizada por membranas de fibrina que se depositan en los parpados desde la infancia, provocando lesiones exofíticas que afectan la visión. También puede afectar otras mucosas como la gingival, respiratoria, orofaríngea, digestiva y genital entre otros. Presentamos un raro caso de deficiencia grave de plasminógeno con conjuntivitis y cervicitis leñosa que ingresó con un cuadro de abdomen agudo clínico, asociado a una masa tumoral por depósito de pseudomembranas en el colon ascendente que simu ló una enfermedad inflamatoria intestinal y que se resolvió espontáneamente.
Abstract Plasminogen deficiency is a very rare multisystem entity that affects different tissues of the economy through the de position of fibrin-rich pseudomembrane and determines a heterogeneous and diverse clinical presentation. It is trans mitted in an autosomal recessive manner by mutations of the PLG gene on chromosome 6 and can be divided into hypoplasminogenemia or type I and dysplasminogenemia or type II, the latter not related to clinical pathology. Severe plasminogen deficiency has a prevalence of 1.6 individuals per million inhabitants and although it can be diagnosed in adulthood, the most severe symptoms are observed in infants and children. The most common form of onset is the so-called woody conjunctivitis, characterized by fibrin membranes that are deposited on the eyelids since child hood, causing exophytic lesions that affect vision. It can also affect other mucous membranes such as the gingival, respiratory, oropharyngeal, digestive and genital mucosa, among others. We present a rare case of severe plasminogen deficiency with conjunctivitis and woody cervicitis who was admitted with clinical acute abdominal symptoms, associated with a tumor mass due to pseudomembranous deposition in the ascending colon that simulated inflam matory bowel disease and resolved spontaneously.
Subject(s)
Biliary Fistula/etiology , Cholecystitis/complications , Cutaneous Fistula/etiology , Aged , Female , HumansSubject(s)
Aged , Female , Humans , Biliary Fistula/etiology , Cholecystitis/complications , Cutaneous Fistula/etiologyABSTRACT
Granulomatosis with polyangiitis (GPA) or Wegener's disease is characterized by a granulomatous vasculitis of the upper and lower airways and kidney. It involves the lower respiratory tract causing subglottic tracheal stenosis, which occurs in approximately 22% of patients. We report two females aged 40 and 52 years, admitted to the hospital with a subglottic tracheal stenosis. Their symptoms and management are reviewed. The first patient responded to rituximab. The second patient required a tracheostomy.
Subject(s)
Granulomatosis with Polyangiitis/complications , Tracheal Stenosis/etiology , Adult , Antibodies, Monoclonal, Murine-Derived/therapeutic use , Female , Humans , Middle Aged , Rituximab , Tracheal Stenosis/therapy , TracheostomyABSTRACT
Granulomatosis with polyangiitis (GPA) or Wegener's disease is characterized by a granulomatous vasculitis of the upper and lower airways and kidney. It involves the lower respiratory tract causing subglottic tracheal stenosis, which occurs in approximately 22% of patients. We report two females aged 40 and 52 years, admitted to the hospital with a subglottic tracheal stenosis. Their symptoms and management are reviewed. The frst patient responded to rituximab. The second patient required a tracheostomy.
Subject(s)
Adult , Female , Humans , Middle Aged , Granulomatosis with Polyangiitis/complications , Tracheal Stenosis/etiology , Antibodies, Monoclonal, Murine-Derived/therapeutic use , Tracheal Stenosis/therapy , TracheostomyABSTRACT
Dyspnea and hypoxemia in a patient with cancer may have several causes, including infections, thromboembolism, metastases, and pulmonary injuries by drugs. We report a 47-year-old female with breast cancer and a 70-year-old male with urinary bladder cancer who were admitted for dyspnea, hypoxemia and pulmonary hypertension. Chest X rays and CT scans were normal. The ventilation-perfusion scintigram was highly suspicions of thromboembolism in the female. The male died 16 hours after admission and the post mortem examination revealed the presence of tumor cells in the pulmonary vasculature.
Subject(s)
Aged , Female , Humans , Male , Middle Aged , Adenocarcinoma/complications , Breast Neoplasms/complications , Neoplastic Cells, Circulating , Prostatic Neoplasms/complications , Pulmonary Embolism/etiology , Urinary Bladder Neoplasms/complications , Adenocarcinoma/pathology , Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/complications , Carcinoma, Ductal, Breast/pathology , Fatal Outcome , Neoplastic Cells, Circulating/pathology , Prostatic Neoplasms/pathology , Pulmonary Embolism/pathology , Urinary Bladder Neoplasms/pathologyABSTRACT
Dyspnea and hypoxemia in a patient with cancer may have several causes, including infections, thromboembolism, metastases, and pulmonary injuries by drugs. We report a 47-year-old female with breast cancer and a 70-year-old male with urinary bladder cancer who were admitted for dyspnea, hypoxemia and pulmonary hypertension. Chest X rays and CT scans were normal. The ventilation-perfusion scintigram was highly suspicions of thromboembolism in the female. The male died 16 hours after admission and the post mortem examination revealed the presence of tumor cells in the pulmonary vasculature.
