Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report

Boueiz, Adel; Abougergi, Marwan S.; Noujeim, Carlos; Assaf, Edmond Bou; Jamaleddine, Ghassan

doi:10.1186/1752-1947-3-6622

Cited by 5 publications

(5 citation statements)

References 17 publications

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“…Similarly in adult series there are TALS cases without preceding pulmonary GVHD 9. Although there are reported adult dyskeratosis DC cases who had suffered from TALS after allo-HSCT for HMDS our patient had none of the clinical signs of the classic DC 15,16…”

Section: Discussionsupporting

confidence: 58%

“…9 Although there are reported adult dyskeratosis DC cases who had suffered from TALS after allo-HSCT for HMDS our patient had none of the clinical signs of the classic DC. 15,16 Our patient who underwent allo-HSCT for HMDS developed skin and gut GVHD on day 60 without any signs of pulmonary GVHD. We were clearly surprised to diagnose grade 2 GVHD in this patient who have undergone a MSD allograft with an intensively and precisely applied sufficient prophylaxis.…”

Section: Discussionmentioning

confidence: 96%

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Thoracic Air Leak Syndrome, Pulmonary Aspergillosis, and COVID-19 Pneumonia After Allogeneic Stem Cell Transplantation in a Child With Myelodysplastic Syndrome

Sever¹,

Kaya²,

Kırkız³

et al. 2021

Journal of Pediatric Hematology/Oncology

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Thoracic air leak syndromes (TALS) are very rare among the noninfectious pulmonary complications (PCs). They can either be idiopathic or have several risk factors such as allogeneic hematopoietic stem cell transplantation (allo-HSCT), graft versus host disease and rarely pulmonary aspergillosis. We present a 14-yearold girl with hypoplastic myelodysplastic syndrome who developed graft versus host disease on day 60, TALS on day 150, bronchiolitis obliterans syndrome on day 300, pulmonary aspergillosis on day 400 and COVID-19 pneumonia on day 575 after allo-HSCT. This is the first report of a child who developed these subsequent PCs after allo-HSCT. Therefore, the manifestations of these unfamiliar PCs like TALS and COVID-19 pneumonia, and concomitant pulmonary aspergillosis with management options are discussed.

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Section: Discussionsupporting

confidence: 58%

Section: Discussionmentioning

confidence: 96%

Thoracic Air Leak Syndrome, Pulmonary Aspergillosis, and COVID-19 Pneumonia After Allogeneic Stem Cell Transplantation in a Child With Myelodysplastic Syndrome

Sever¹,

Kaya²,

Kırkız³

et al. 2021

Journal of Pediatric Hematology/Oncology

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“…Oral leukoplakia: Although some reports have documented normal oral mucosa , , , , white or black patches representing leukoplakia , , , , –, , ––––, are prevalent in 80 % of cases , . Leukoplakia may occur at birth or within few months of life , .…”

Section: Clinical Aspectsmentioning

confidence: 99%

Dyskeratosis congenita: a literature review

Alsabbagh

2020

J Deutsche Derma Gesell

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Dyskeratosis congenita is a rare hereditary disease that occurs predominantly in males and manifests clinically as the classic triad of reticulate hyperpigmentation, nail dystrophy and leukoplakia. It increases the risk of malignancy and other potentially lethal complications such as bone marrow failure, lung and liver diseases. Mutations in 19 genes are associated with dyskeratosis congenita, and a fifth of the pathogenic mutations are found in DKC1, the gene coding for dyskerin. This review aims to address the clinical and genetic aspects of the disease.

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“…Bone marrow failure accounts for 70% of all mortality, with up to 15% of deaths caused by pulmonary complications and 10% by malignancy [7]. Pulmonary diseases include pulmonary fibrosis, or in severe cases, fatal pneumothoraces [8]. Solid organ cancers, such as head and neck squamous cell carcinomas, skin cancers, and anorectal carcinomas [9], have an aggressive natural history in patients with DKC, as highlighted in a recent case report [10].…”

Section: Discussionmentioning

confidence: 99%

Two Cases of Dyskeratosis Congenita with Clinically Distinct Presentations, Seen in National University Hospital, Singapore

Juay¹,

Chandran²

2021

Skin Appendage Disord

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Dyskeratosis congenita (DKC) is a genodermatosis of variable inheritance and is often characterised by the classical triad of nail dysplasia, reticulate hyperpigmentation of upper chest and neck, and oral leukoplakia. We report 2 cases of DKC from National University Hospital, Singapore, whose clinical presentations differed greatly from each other. Dermatologists should hold a high index of suspicion for DKC in young patients who present without the classical triad of features, as early dermatological care can be instituted through reinforcement of rigorous sun protection and regular surveillance for skin cancers. Early diagnosis also offers physicians the time to organise haematopoietic stem cell transplantation if necessary, as bone marrow failure is often inevitable. As a multisystemic disease with high morbidity and mortality particularly from haematological complications if left undetected and untreated in the early stages, the role of the dermatologist in diagnosing DKC is a crucial one.

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Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report

Cited by 5 publications

References 17 publications

Thoracic Air Leak Syndrome, Pulmonary Aspergillosis, and COVID-19 Pneumonia After Allogeneic Stem Cell Transplantation in a Child With Myelodysplastic Syndrome

Thoracic Air Leak Syndrome, Pulmonary Aspergillosis, and COVID-19 Pneumonia After Allogeneic Stem Cell Transplantation in a Child With Myelodysplastic Syndrome

Dyskeratosis congenita: a literature review

Two Cases of Dyskeratosis Congenita with Clinically Distinct Presentations, Seen in National University Hospital, Singapore

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