Skin manifestations amongGATA2-deficient patients

Abstract

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:

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

“…Apart from hematologic and infectious phenotypes, additional clinical presentations have been described in the last six years, such as aplastic anemia, 8 pulmonary alveolar proteinosis, 9 dermatological, 10 autoimmune or vascular features. So far, a total of 158 patients with a germline GATA2 mutation have been reported in 4 large surveys.…”

Spectrum of cutaneous manifestations among patients with GATA2 deficiency

“…Although skin manifestations are well delineated in patients with GATA2‐deficiency, they are not reported in the dermatology literature. In this issue of the BJD , Polat et al . report three patients harbouring GATA2 mutations with new skin findings not previously described, adding to the spectrum of cutaneous manifestations in GATA2 deficiency.…”

“… HPV, human papillomavirus; MDS, myelodysplastic syndrome; AML, acute myeloid leukaemia. a Reported by Polat et al . in this issue of the BJD . …”

Folliculotropic mycosis fungoides associated withGATA2deficiency: a new skin manifestation

“…Recently, Polat et al . reviewed skin manifestations associated with GATA2 deficiency . We report for the first time a case of mycosis fungoides (MF) in a patient with MonoMAC syndrome.…”

“…Previously described cutaneous manifestations associated with GATA2 deficiency include lymphoedema and Emberger syndrome (primary lymphoedema with MDS), viral skin infections (flat or mosaic warts, condyloma, molluscum contagiosum, severe varicella, herpetic stomatitis), bacterial and nontuberculous mycobacterial skin infections, panniculitis, vasculitis, neutrophilic dermatosis such as Sweet syndrome, cutaneous lupus lesions and sarcoidosis‐like granulomatous dermatosis. Recently, Polat et al ., described unusual cutaneous manifestations such as gingival hypertrophy, recurrent aphthae and sclerodermiform changes …”