A woman with warts, leg swelling, and deafness

Muszynski, Melissa A.; Zerbe, Christa S.; Holland, Steven M.; Kong, Heidi H.

doi:10.1016/j.jaad.2014.04.027

Cited by 7 publications

(5 citation statements)

References 10 publications

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“…Warts are seen on extremities and genitalia (common or flat type) in about 50% of patients and are difficult to treat. 62,63 . Neutrophilic pustulosis (Sweet syndrome) can be seen in patients who go on to develop MDS or AML.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Germline GATA2 Mutation and Bone Marrow Failure

McReynolds

Calvo

Holland

2018

Hematology/Oncology Clinics of North America

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GATA2 deficiency is an immunodeficiency and bone marrow failure disorder caused by pathogenic variants in GATA2. It is inherited in an autosomal-dominant pattern or can be due to de novo sporadic germline mutation. Patients commonly have B-cell, dendritic cell, natural killer cell, and monocytopenias, and are predisposed to myelodysplastic syndrome, acute myeloid leukemia, and chronic myelomonocytic leukemia. Patients may suffer from disseminated human papilloma virus and mycobacterial infections, pulmonary alveolar proteinosis, and lymphedema. The bone marrow eventually takes on a characteristic hypocellular myelodysplasia with loss of monocytes and hematogones, megakaryocytes with separated nuclear lobes, micromegakaryocytes, and megakaryocytes with hypolobated nuclei.

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Section: Clinical Manifestationsmentioning

confidence: 99%

Germline GATA2 Mutation and Bone Marrow Failure

McReynolds

Calvo

Holland

2018

Hematology/Oncology Clinics of North America

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“…Monitoring of patients by dermatologists is therefore important. Non HPV‐related squamous cell and basal cell carcinomas have also been described . Additionally, melanoma and three cases of Sweet syndrome have been reported in the setting of underlying MDS/AML …”

Section: Discussionmentioning

confidence: 99%

“…Non HPV-related squamous cell and basal cell carcinomas have also been described. 10,11 Additionally, melanoma and three cases of Sweet syndrome have been reported in the setting of underlying MDS/AML. 4 Our patients had unusual cutaneous manifestations not described previously.…”

Section: Discussionmentioning

confidence: 99%

Skin manifestations amongGATA2-deficient patients

et al. 2017

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ABSTRACT:GATA2 mutations have been identified in various diseases, such as monoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukemia, and dendritic cell, monocyte, B and NK cell deficiency. These syndromes present a wide range of Accepted Article. clinical features, dominated by severe infections and haematological disorders such as myelodysplastic syndrome. Up to 70% of GATA2-mutated patients have dermatological features, mainly genital or extra-genital warts, panniculitis or erythema nodosum, and lymphedema. We report 3 patients presenting with common dermatological and haematological features leading to the diagnosis of GATA2 deficiency, but also with skin manifestations that have not been previously described: gingival hypertrophy, macroglossitis and glossitis, and granulomatous lupoid facial lesions. Dermatologists can encounter GATA2-mutated patients and should recognize this disorder. INTRODUCTION:

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“… 2 GATA2 is a zinc finger transcription factor that is essential for effective hematopoiesis. 3 Both sporadic cases and inheritance in an autosomal dominant manner with high penetrance have been described. 4 It typically presents in childhood or adolescence with peripheral blood monocytopenia and NK, B cell, and dendritic cell lymphocytopenia.…”

Section: Inroductionmentioning

confidence: 99%

“…Their increased incidence is possibly due to an impaired GATA2-mediated surfactant metabolism and excretion by lung macrophages. 3 However, it is not the leading cause of death in patients with GATA2 deficiency. 4 …”

Section: Inroductionmentioning

confidence: 99%