LymphedemaV1, Main, Exploration, bibRecord, 000176

Skin manifestations among GATA2-deficient patients.

Identifieur interne : 000176 ( Main/Exploration ); précédent : 000175; suivant : 000177

Skin manifestations among GATA2-deficient patients.

Auteurs : A. Polat [France] ; M. Dinulescu [France] ; S. Fraitag [France] ; S. Nimubona [France] ; F. Toutain [France] ; S. Jouneau [France] ; E. Poullot [France] ; C. Droitcourt [France] ; A. Dupuy [France]

Source :

The British journal of dermatology [ 1365-2133 ] ; 2017.

RBID : pubmed:28440875

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 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. This article is protected by copyright. All rights reserved.

DOI: 10.1111/bjd.15548
PubMed: 28440875

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">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 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. This article is protected by copyright. All rights reserved.</div>
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Serveur d'exploration sur le lymphœdème

Skin manifestations among GATA2-deficient patients.

Skin manifestations among GATA2-deficient patients.

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