Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.
Am J Dermatopathol
; 45(1): 47-50, 2023 Jan 01.
Article
em En
| MEDLINE
| ID: mdl-36484606
ABSTRACT
ABSTRACT Deficiency of adenosine deaminase type 2 (DADA2) is an autosomal recessive monogenic autoinflammatory syndrome that is classically characterised by polyarteritis nodosa, systemic vasculitis and stroke. The spectrum of disease manifestations has broadened to encompass a range of cutaneous, vascular and haematological manifestations. We report a novel association in two sisters with heterozygous p.R169G/p.M309l mutations in ADA2 with low serum ADA2 activity who both presented similarly with clinical and histological features consistent with histiocytoid Sweet syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Adenosina Desaminase
/
Síndrome de Sweet
/
Peptídeos e Proteínas de Sinalização Intercelular
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Am J Dermatopathol
Ano de publicação:
2023
Tipo de documento:
Article