scholarly journals Ecthyma gangrenosum due to Pseudomonas aeruginosa sepsis as initial manifestation of X-linked agammaglobulinemia: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Haixia Huang ◽  
Ke Bai ◽  
Yueqiang Fu ◽  
Jin Yan ◽  
Jing Li
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Case Report ◽  
Sanger Sequencing ◽  
Cutaneous Lesion ◽  
Initial Manifestation ◽  
Case Presentation ◽  
Ecthyma Gangrenosum ◽  
Immunodeficiency Disorder ◽  
Bruton Tyrosine Kinase ◽  
Exon 4

Abstract Background X-linked agammaglobulinemia (XLA, OMIM#300,300), caused by mutations in the Bruton tyrosine kinase (BTK) gene, is a rare monogenic inheritable immunodeficiency disorder. Ecthyma gangrenosum is a cutaneous lesion caused by Pseudomonas aeruginosa that typically occurs in patients with XLA and other immunodeficiencies. Case presentation We report the case of a 20-month-old boy who presented with fever, vomiting, diarrhea, and ecthyma gangrenosum. Blood, stool, and skin lesion culture samples were positive for P. aeruginosa. A diagnosis of XLA was established, and the c.262G > T mutation in exon 4 of BTK was identified with Sanger sequencing. Symptoms improved following treatment with antibiotics and immunoglobulin infusion. Conclusions Primary immunodeficiency (i.e., XLA) should be suspected in male infants with P. aeruginosa sepsis, highlighting the importance of genetic and immune testing in these patients.

scholarly journals MRSA as a causative factor for ecthyma gangrenosum: a rare case report

2019 ◽  
Vol 10 (4) ◽  
pp. 2745-2747
Author(s):  
Kiran Madhusudhan ◽  
Madhusudhan
Keyword(s):  
Staphylococcus Aureus ◽  
Pseudomonas Aeruginosa ◽  
Case Report ◽  
Rare Case ◽  
Methicillin Resistant Staphylococcus Aureus ◽  
Causative Factor ◽  
Lower Limbs ◽  
Skin Manifestation ◽  
Ecthyma Gangrenosum ◽  
Rare Case Report

Ecthyma gangrenosum is a skin manifestation of Pseudomonas aeruginosa in immunocompromised individuals. Here we report a case of a 64-year-old diabetic female with Ecthyma gangrenosum lesions on both lower limbs, admitted for surgical debridement. Pus culture taken during surgery showed growth of Methicillin-resistant Staphylococcus aureus. The patient was started on appropriate antibiotics with reasonable glycemic control using parenteral insulin. The patient responded well to the above treatment and was discharged.

scholarly journals Histiocytoid Giant Cellulitis-Like Sweet Syndrome At The Site of Sternal Aspiration: A Case Report

2021 ◽  
Author(s):  
Dewan Zhao ◽  
Jing Ni ◽  
Xiuli Sun
Keyword(s):  
Case Report ◽  
Cutaneous Lesion ◽  
Blood Cultures ◽  
Puncture Site ◽  
Angioneurotic Edema ◽  
Sweet Syndrome ◽  
Case Presentation ◽  
Floor Of The Mouth ◽  
History Of

Abstract Background: Sweet syndrome with both histiocytoid pathology and giant cellulitis-like lesion feature is extremely rare and has only been reported once. Our case is different from the previous report because the cutaneous lesion was caused by local invasive irritation, which made it much more difficult to distinguish from cellulitis.Case presentation: A 52-year-old male was diagnosed with myelodysplastic syndrome with multilineage dysplasia (MDS-MLD) associated with myelofibrosis (MDS-F) as well as angioneurotic edema of the tongue and floor of the mouth. Seven days after sternal aspiration, a cellulitis-like lesion was formed at the puncture site. Since he had neutropenia, history of glucocorticoid use and didn't keep the site dry and clean after aspiration, cellulitis was diagnosed, followed by broad-spectrum antibiotics and debridement. However, the lesion continued to expand, associated with blisters formation, accompanied by chills and fever. Blood cultures and blister smears didn't detect any pathogens. Biopsy of the lesion was performed and histiocytoid Sweet syndrome was diagnosed. He received prednisone treatment, and the fever relieved within 24 hours and the cutaneous lesion resolved within one week. He has had no recurrence during two-month follow-up.Conclusions: This case can provide help for timely diagnosis and treatment and a reference for further summarizing the characteristics of this rare variant.

scholarly journals X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Can Ozturk ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Afig Berdeli
Keyword(s):  
Case Report ◽  
Tyrosine Kinase ◽  
Gene Mutation ◽  
Bacterial Infections ◽  
Hemophagocytic Syndrome ◽  
Recurrent Infections ◽  
Case Presentation ◽  
Bruton Tyrosine Kinase ◽  
History Of ◽  
Challenging Situation

Introduction. Coincidence of X-linked agammaglobulinemia (XLA) and secondary hemophagocytic syndrome (sHS) is atypical. Both diseases are rare and pathogenesis of the latter one is not clearly known.Case Presentation. A 5-year-old boy was diagnosed both with XLA and sHS. However, in his history, he did not have severe and recurrent infections. Bruton tyrosine kinase (BTK) gene mutation was present (c.1581_1584delTTTG). To the best of the authors’ knowledge, coincidence of XLA and sHS had not been reported in the literature before.Conclusion. Patients with XLA are extremely vulnerable to recurrent bacterial infections. The diagnosis of XLA with sHS at any time of life is both an interesting and challenging situation without history of recurrent bacterial infections.

scholarly journals Ecthyma gangrenosum in hematological patients - a report of two cases

2019 ◽  
Vol 72 (3-4) ◽  
pp. 119-121
Author(s):  
Mirjana Tomic ◽  
Ivanka Percic ◽  
Danijela Agic ◽  
Nada Vlaisavljevic ◽  
Borivoj Sekulic ◽  
...  
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Case Report ◽  
Skin Disorder ◽  
Skin Lesions ◽  
Underlying Disease ◽  
The Other ◽  
Immunocompromised Patients ◽  
Hematological Patients ◽  
Ecthyma Gangrenosum ◽  
First Case

Introduction. Ecthyma gangrenosum is a rare skin disorder which commonly affects immunocompromised patients. Case Report. We report two hematological patients suffering from ecthyma gangrenosum. Pseudomonas aeruginosa was isolated from skin lesions of both patients, but bacteremia was present only in the first case. These two cases had different pathogenic mechanisms and outcomes. Conclusion. Early diagnosis and prompt combination antibiotic therapy are of utmost importance in the treatment of this condition. On the other hand, the underlying disease has a great impact on the outcome as well.

scholarly journals An Extraordinary Cause of the Sucking Difficulty: Ecthyma Gangrenosum

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Nesrin Ceylan ◽  
Nihat Demir ◽  
Selami Kocaman ◽  
Erdal Peker ◽  
Oğuz Tuncer
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Soft Palate ◽  
Cutaneous Lesion ◽  
Tissue Loss ◽  
Immunocompromised Patients ◽  
Premature Newborn ◽  
Ecthyma Gangrenosum ◽  
Fungal Organisms

Ecthyma gangrenosum is a cutaneous lesion often associated with pseudomonas aeruginosa bacteremia, even though it may develop without bacteremia and may originate from other bacterial and fungal organisms. Pseudomonas aeruginosa bacteremia or sepsis, which mainly affects immunocompromised patients, frequently occurs in hospitals. This lesion typically occurs on the extremities and gluteal and perineal regions. In this report we present a case of ecthyma gangrenosum in a premature newborn occurring secondary to pseudomonas sepsis causing sucking dysfunction due to tissue loss in the lip, soft palate, and tongue.

scholarly journals Novel PHOX2B germline mutation in childhood medulloblastoma: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Caiping Ke ◽  
Xiaoshun Shi ◽  
Allen Menglin Chen ◽  
Chaoming Li ◽  
Bifeng Jiang ◽  
...  
Keyword(s):  
Case Report ◽  
Germline Mutation ◽  
Sanger Sequencing ◽  
De Novo ◽  
Germline Mutations ◽  
Case Presentation ◽  
Second Child ◽  
Germline Variant ◽  
Whole Exome ◽  
Childhood Medulloblastoma

Abstract Background Medulloblastoma is an aggressive brain tumor mostly found in children, few studies on pathogenic germline mutations predisposing this disease was reported. Case presentation We present an 11-year-old male with medulloblastoma, who harbors a de novo PHOX2B germline mutation as detected by whole exome sequencing (WES). Family history was negative. Sanger sequencing confirmed this mutation in peripheral blood, hair bulbs, urine and saliva. Identification of novel germline mutations is beneficial for childhood cancer screening. Conclusions This case revealed a de novo PHOX2B germline mutation as a potential cause of medulloblastoma in a child and suggests familial germline variant screening is useful when an affected family is considering having a second child.

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