China
Africa
Explore chapters and articles related to this topic
Histiocytosis and Lipid Storage Diseases
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Salwa Shabbir Sheikh, David F. Garvin
c. Congenital Self-Healing Histiocytosis. Congenital self-healing histiocytosis is a rare, benign disorder, usually diagnosed at birth, with predominant skin involvement. It is also called “blueberry muffin baby” due to the widespread skin involvement. The condition usually resolves spontaneously, although lung involvement can be life threatening.
Medical slang
Published in Alan Bleakley, Routledge handbook of the medical humanities, 2019
I first started thinking about metaphors in medicine when I was in graduate school. At the time my partner was a medical student at the same university, so I often found myself futilely tuning out the group study sessions he hosted for his friends while I agonised over my dissertation in the bedroom of our tiny apartment. I can recall rather clearly the time I overheard them talking about the differential diagnosis for a ‘blueberry muffin baby.’ I remember thinking to myself—wow, that sounds adorable; what a cute way to describe a newborn. I was, in fact, so delighted by the image I’d conjured in my mind that I went over to where they were studying and asked them about it. You might imagine my horror when they told me that the bluish marks on the skin that define the blueberry muffin baby signify underlying causes that range from blood disorders or infections like herpes and syphilis to congenital leukaemia and even metastatic neuroblastoma. They told me that other symptoms can be an enlarged liver or spleen, congenital blindness and deafness, micro or macrocephaly, and seizures.
Viral infections
Published in Biju Vasudevan, Rajesh Verma, Dermatological Emergencies, 2019
Infection with rubella virus in early gestation (first trimester) may cause a number of congenital defects, fetal death, spontaneous abortion, or premature delivery. Congenital rubella syndrome is characterized by cataracts, deafness, congenital cardiac defects (patent ductus arteriosus, ventricular septal defects) and CNS abnormalities (microcephaly, developmental delay). A “blueberry muffin baby” presentation due to dermal hematopoiesis is occasionally observed.
Delayed therapy initiation for a case with congenital leukemia with transient spontaneous regression
Published in Pediatric Hematology and Oncology, 2022
Kosuke Tamefusa, Satoshi Sunada, Yusei Nakata, Hirokazu Agawa, Ritsuo Nishiuchi
Leukemia with cutaneous infiltration is found in 30% to 60% of congenital leukemia and described as blueberry muffin baby. SR is a well-recognized but rare feature of congenital leukemia.1 While SR is most often described in AML M5 with cutaneous infiltration, predicting which congenital leukemia case will experience SR is difficult. SR sometimes gradually occurs over many months, is transient for a few months, or is incomplete. Coenen et al. reported that neonatal patients with AML and t(8;16)(p11.2;p13.3)/CAT6A-CREBBP showed recurrent SR.5 These authors suggested that a “watch-and-wait” strategy could be considered in patients with congenital t(8;16)(p11.2;p13.3) AML and mild clinical symptoms. Twelve cases of congenital leukemia with t(8;16)(p11.2;p13.3)/CAT6A-CREBBP with SR have been reported and seven remained in remission.6 In contrast, cases of KMT2A gene rearrangement, which is the most frequently observed underlying genetic abnormality in congenital leukemia, are rarely associated with sustained SR.1,2 Only one case with t(1;11)(p32;q23) and one case with t(9;11) have been reported.3,7