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CHRONIC MUCOCUTANEOUS CANDIDIASIS: IS NOT WHAT WE HAVE THOUGHT
Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
M269 UNDER-RECOGNIZED DIAGNOSIS UNDERLYING A DESQUAMATING RASH WITH EOSINOPHILIA AND BANDEMIA. N. Anooshiravani*, R. Joks, R. Karanicolas, Brooklyn, NY Introduction: Secondary Hemophagocytic lymphohistiocytosis (HLH) is a rare but life-threatening condition characterized by uncontrolled systemic inflammation and cytokine storm (1). Underlying confounders or diseases that mimic acute presentation (such as sepsis) can lead to delay in diagnosis (1) (3). High mortality is often due to missed or delayed diagnosis. (2). Case Description: 45-year old woman with no significant past medical history admitted with a generalized pruritic, scaly, desquamating rash for 2 weeks associated with fevers, transaminitis, eosinophilia and bandemia. She was treated with antibiotics for presumed sepsis, but had negative cultures, however was persistently febrile and antibiotics were broadened to meropenem, levaquin, fluconazole and ivermectin. Two weeks in to admission, with continued fevers, she was found to have high inflammatory markers (ferritin 100,000, ESR>130, CRP >300) and an initial positive ANA 1:80 (negative on repeat). Patient continued to have eosinophilia, bandemia, lymphopenia but other autoimmune markers were negative with normal complements. BM biopsy showed hemophagocytosis on second week of admission consistent with diagnosis of HLH. Hospital course complicated by multi-organ failure, seizure and cardiopulmonary arrest. Patient started on chemotherapy with Etoposide and Dexamethasone, but unable to tolerate therapy due to unstable vital signs, hepato-renal failure and worsening pancytopenia. Patient did stabilize after initial treatment with supportive measures, however had a prolonged complicated hospital course including tracheostomy and PEG insertion as a sequelae of her cardiopulmonary arrest. Discussion: Keeping HLH high on the differential, especially in patients not responding to antibiotics despite appropriate therapy, is important to avoid missed diagnoses and improved patient outcomes.
M270 CHRONIC MUCOCUTANEOUS CANDIDIASIS: IS NOT WHAT WE HAVE THOUGHT ~ iga*1, M. Canseco2, C. MOCTEZUMA2, N. Garcia1, C. Zun 1. AZCAPOTZALCO, CIUDAD DE MEXICO, Mexico; 2. AZCAPOTZALCO, Mexico Introduction: Chronic mucocutaneous candidiasis is only treated symptomatically, most cases do not have a diagnosis of certainty, however, at least half of the cases are caused by transducer and activator of transcription 1 (STAT1) mutations. Case Description: Female of 12 years; mother with systemic lupus erythematosus, oral and vaginal candidiasis. Medical history: refers to 8 cases of urinary tract infection from 3 years of age with a microbiological report of Candida spp., from birth vulvovaginal infections of recurrence, aphthae and oral candiadiasis rebellious to treatment with frequent recurrences. Starts study protocol in 2015 with profile of immunoglobulins and immunoglobulin G subclasses normal, subpopulations of lymphocytes normal, initiates prophylactic treatment with itraconazole, presenting recurrences. Lymphocyte function tests were performed with normality report, initiate immunomodulation with transfer factor, partial response. Start treatment with intravenous immunoglobulin at a dose of 400 mg/kg/dose with a decrease in infectious processes; 2016 molecular study were performed with diagnosis of STAT1 mutation with gain of function. Discussion: In patients with chronic mucocutaneous candidiasis the presence of STAT1 mutations with gain of function must be considered, responsible for the regulation of the Th17 response, which is characterized by the production of interleukin 17 and 22, crucial for
S107
the epithelial defense; the use of the transfer factor confers an immunoregulation factor, which is why it was granted to the patient. In our country, the report of these entities will help to increase the index of suspicion, favor the detection and grant the early treatment of this entity.
M271 NECROTIZING FASCIITIS SECONDARY TO CLOSTRIDIUM SEPTICUM IN A PATIENT WITH MYD88 DEFICIENCY K. Nguyen*, P. Mehta, D. Conway, Philadelphia, PA Introduction: MyD88 deficiency impairs toll-like receptor and interleukin-1 receptor mediated immunity. This results in bacterial infections of the upper respiratory tract and skin and predisposes patients to invasive infection with pyogenic bacteria. Clostridium septicum is an anaerobic bacteria that rarely affects children. This case discusses a patient with MyD88 deficiency presenting with necrotizing fasciitis secondary to Clostridium septicum. Case Description: Our patient is a 9-year old female with known MyD88 deficiency and history of multiple invasive bacterial infections. She presented with knee and abdominal pain and had extensive subcutaneous air on x-ray. She was immediately taken to the operating room for debridement and wound VAC placement and was found to have necrotizing fasciitis, necrotizing myositis, and necrotizing cellulitis secondary to Clostridium septicum. She was started on broad spectrum antibiotics that were later narrowed based on culture sensitivities. She then developed further extension of her disease and antibiotics were adjusted. Throughout her hospitalization she underwent numerous debridements, hyperbaric oxygen therapy, and multiple IVIG infusions. Antibiotic therapy was adjusted throughout hospitalization and narrowed by time of discharge. Discussion: This patient’s presentation of necrotizing fasciitis, necrotizing myositis, and necrotizing cellulitis secondary to Clostridium septicum is unique. This organism is typically found to infect adults with malignant disease, such as colorectal cancer. In other reported pediatric cases of Clostridium septicum, it has been associated with neutropenia. This case is important to report, as it may lead to discovery of additional pathways in which MyD88 deficiency may alter immune response.
M272 FEVER AND RESPIRATORY DISTRESS IN AN INFANT: MANNOSE-BINDING LECTIN DEFICIENCY? K. Reddy*, S. Alagheband, L. Schmidt, A. Yates, Jackson, MS Introduction: Mannose-binding lectin (MBL) plays an important role in innate immunity by mediating phagocytosis and complementmediated destruction of pathogens. Decreased MBL levels have been associated with an increased susceptibility to herpes simplex virus, influenza A, Pseudomonas aeruginosa, and Staphylococcus aureus. MBL- deficient individuals typically present with upper respiratory tract infections, acute otitis media, or lupus-like symptoms. We present an infant with multiple infections who was diagnosed with MBL deficiency. Case Description: This is a 7-week-old term male with a history of failure to thrive and acute otitis media. He was admitted with fever, respiratory distress, and new onset seizures. A respiratory panel was positive for Influenza B, Enterovirus, and Rhinovirus. Physical exam was significant for hepatomegaly and a desquamating rash on his lips, buttocks, and left hand consistent with possible Staphylococcus scalded skin syndrome, treated with antibiotics. An immunodeficiency was suspected because of multiple infections. Laboratory work-up revealed a positive blood culture to MRSA and low
M269 UNDER-RECOGNIZED DIAGNOSIS UNDERLYING A DESQUAMATING RASH WITH EOSINOPHILIA AND BANDEMIA. N. Anooshiravani*, R. Joks, R. Karanicolas, Brooklyn, NY Introduction: Secondary Hemophagocytic lymphohistiocytosis (HLH) is a rare but life-threatening condition characterized by uncontrolled systemic inflammation and cytokine storm (1). Underlying confounders or diseases that mimic acute presentation (such as sepsis) can lead to delay in diagnosis (1) (3). High mortality is often due to missed or delayed diagnosis. (2). Case Description: 45-year old woman with no significant past medical history admitted with a generalized pruritic, scaly, desquamating rash for 2 weeks associated with fevers, transaminitis, eosinophilia and bandemia. She was treated with antibiotics for presumed sepsis, but had negative cultures, however was persistently febrile and antibiotics were broadened to meropenem, levaquin, fluconazole and ivermectin. Two weeks in to admission, with continued fevers, she was found to have high inflammatory markers (ferritin 100,000, ESR>130, CRP >300) and an initial positive ANA 1:80 (negative on repeat). Patient continued to have eosinophilia, bandemia, lymphopenia but other autoimmune markers were negative with normal complements. BM biopsy showed hemophagocytosis on second week of admission consistent with diagnosis of HLH. Hospital course complicated by multi-organ failure, seizure and cardiopulmonary arrest. Patient started on chemotherapy with Etoposide and Dexamethasone, but unable to tolerate therapy due to unstable vital signs, hepato-renal failure and worsening pancytopenia. Patient did stabilize after initial treatment with supportive measures, however had a prolonged complicated hospital course including tracheostomy and PEG insertion as a sequelae of her cardiopulmonary arrest. Discussion: Keeping HLH high on the differential, especially in patients not responding to antibiotics despite appropriate therapy, is important to avoid missed diagnoses and improved patient outcomes.
M270 CHRONIC MUCOCUTANEOUS CANDIDIASIS: IS NOT WHAT WE HAVE THOUGHT ~ iga*1, M. Canseco2, C. MOCTEZUMA2, N. Garcia1, C. Zun 1. AZCAPOTZALCO, CIUDAD DE MEXICO, Mexico; 2. AZCAPOTZALCO, Mexico Introduction: Chronic mucocutaneous candidiasis is only treated symptomatically, most cases do not have a diagnosis of certainty, however, at least half of the cases are caused by transducer and activator of transcription 1 (STAT1) mutations. Case Description: Female of 12 years; mother with systemic lupus erythematosus, oral and vaginal candidiasis. Medical history: refers to 8 cases of urinary tract infection from 3 years of age with a microbiological report of Candida spp., from birth vulvovaginal infections of recurrence, aphthae and oral candiadiasis rebellious to treatment with frequent recurrences. Starts study protocol in 2015 with profile of immunoglobulins and immunoglobulin G subclasses normal, subpopulations of lymphocytes normal, initiates prophylactic treatment with itraconazole, presenting recurrences. Lymphocyte function tests were performed with normality report, initiate immunomodulation with transfer factor, partial response. Start treatment with intravenous immunoglobulin at a dose of 400 mg/kg/dose with a decrease in infectious processes; 2016 molecular study were performed with diagnosis of STAT1 mutation with gain of function. Discussion: In patients with chronic mucocutaneous candidiasis the presence of STAT1 mutations with gain of function must be considered, responsible for the regulation of the Th17 response, which is characterized by the production of interleukin 17 and 22, crucial for
S107
the epithelial defense; the use of the transfer factor confers an immunoregulation factor, which is why it was granted to the patient. In our country, the report of these entities will help to increase the index of suspicion, favor the detection and grant the early treatment of this entity.
M271 NECROTIZING FASCIITIS SECONDARY TO CLOSTRIDIUM SEPTICUM IN A PATIENT WITH MYD88 DEFICIENCY K. Nguyen*, P. Mehta, D. Conway, Philadelphia, PA Introduction: MyD88 deficiency impairs toll-like receptor and interleukin-1 receptor mediated immunity. This results in bacterial infections of the upper respiratory tract and skin and predisposes patients to invasive infection with pyogenic bacteria. Clostridium septicum is an anaerobic bacteria that rarely affects children. This case discusses a patient with MyD88 deficiency presenting with necrotizing fasciitis secondary to Clostridium septicum. Case Description: Our patient is a 9-year old female with known MyD88 deficiency and history of multiple invasive bacterial infections. She presented with knee and abdominal pain and had extensive subcutaneous air on x-ray. She was immediately taken to the operating room for debridement and wound VAC placement and was found to have necrotizing fasciitis, necrotizing myositis, and necrotizing cellulitis secondary to Clostridium septicum. She was started on broad spectrum antibiotics that were later narrowed based on culture sensitivities. She then developed further extension of her disease and antibiotics were adjusted. Throughout her hospitalization she underwent numerous debridements, hyperbaric oxygen therapy, and multiple IVIG infusions. Antibiotic therapy was adjusted throughout hospitalization and narrowed by time of discharge. Discussion: This patient’s presentation of necrotizing fasciitis, necrotizing myositis, and necrotizing cellulitis secondary to Clostridium septicum is unique. This organism is typically found to infect adults with malignant disease, such as colorectal cancer. In other reported pediatric cases of Clostridium septicum, it has been associated with neutropenia. This case is important to report, as it may lead to discovery of additional pathways in which MyD88 deficiency may alter immune response.
M272 FEVER AND RESPIRATORY DISTRESS IN AN INFANT: MANNOSE-BINDING LECTIN DEFICIENCY? K. Reddy*, S. Alagheband, L. Schmidt, A. Yates, Jackson, MS Introduction: Mannose-binding lectin (MBL) plays an important role in innate immunity by mediating phagocytosis and complementmediated destruction of pathogens. Decreased MBL levels have been associated with an increased susceptibility to herpes simplex virus, influenza A, Pseudomonas aeruginosa, and Staphylococcus aureus. MBL- deficient individuals typically present with upper respiratory tract infections, acute otitis media, or lupus-like symptoms. We present an infant with multiple infections who was diagnosed with MBL deficiency. Case Description: This is a 7-week-old term male with a history of failure to thrive and acute otitis media. He was admitted with fever, respiratory distress, and new onset seizures. A respiratory panel was positive for Influenza B, Enterovirus, and Rhinovirus. Physical exam was significant for hepatomegaly and a desquamating rash on his lips, buttocks, and left hand consistent with possible Staphylococcus scalded skin syndrome, treated with antibiotics. An immunodeficiency was suspected because of multiple infections. Laboratory work-up revealed a positive blood culture to MRSA and low