Transient myeloproliferative disorder with vesiculopustular eruption: Early smear is useful for quick diagnosis.
We report a male infant with Down syndrome who had a transient myeloproliferative disorder associated with skin lesions. He was transferred to a neonatal intensive care unit because of low body weight, fetal edema, disseminated intravascular coagulation, and 10% blast cells in the peripheral blood. On postnatal day (PD) 1, erythema with small papules, vesicles, and pustules appeared on the entire body. A smear preparation from the pustules on PD 2 showed 10% blast cells. A biopsy specimen taken on PD 5 revealed subcorneal pustules containing neutrophils and eosinophils. Genetic analyses detected a somatic mutation (197G>T, Glu295Stop) in exon 2 of GATA-1. On PD 10, the eruptions resolved spontaneously and the population of blast cells in peripheral blood decreased to 1%. The number of blast cells in pustules decreased markedly after three days. Therefore, we recommend that cytologic examination should be performed as early as possible.
Uhara
Hisashi
H
Department of Dermatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan. uhara@shinshu-u.ac.jp
Shiohara
Masaaki
M
Baba
Atsushi
A
Shiohara
Junko
J
Saida
Toshiaki
T
D004314:Down Syndrome / Q000150:complications; D050982:GATA1 Transcription Factor / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009196:Myeloproliferative Disorders / Q000175:diagnosis / Q000473:pathology*; D012872:Skin Diseases, Vesiculobullous / Q000473:pathology*
D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human