A case of congenital leukemia cutis.

Ann Dermatol

Department of Dermatology, College of Medicine, Hallym University, Seoul, Korea.

Published: February 2009

Congenital leukemia is a rare disease that develops from birth to 6 weeks of life. Leukemia cutis involves cutaneous infiltration by leukemic cells and is an unusual manifestation of leukemia, and has been documented in 25~30% of patients with congenital leukemia. The authors report a case of congenital leukemia cutis. A newborn male presented with widespread firm dusky red papules and nodules on almost his entire body surface. Skin biopsy specimens confirmed the presence of leukemic infiltrations, and bone marrow cytology was consistent with acute myeloid leukemia of the FAB M5 type.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883375PMC
http://dx.doi.org/10.5021/ad.2009.21.1.66DOI Listing

Publication Analysis

Top Keywords

congenital leukemia
16
leukemia cutis
12
case congenital
8
leukemia
7
cutis congenital
4
leukemia rare
4
rare disease
4
disease develops
4
develops birth
4
birth weeks
4

Similar Publications

Leukemia symptoms occurring in the first 4 weeks of infancy are known as congenital leukemia. We present a case of congenital leukemia in a full-term neonate manifesting at birth with a grossly distended abdomen due to a large abdominal mass. Ultrasonography of the abdomen showed a large abdominal mass originating from the liver.

View Article and Find Full Text PDF

JAGN1 (Jagunal-homolog1) is a ER-resident transmembrane protein which is part of the early secretory pathway and granulocyte colony-stimulating factor receptor mediated signaling. Autosomal recessively inherited variants in the JAGN1 gene lead to congenital neutropenia, early-onset bacterial infections, aphthosis and skin abscesses due to aberrant differentiation and maturation of neutrophils. In addition, bone metabolism disorders and a syndromic phenotype, including facial features, short stature and neurodevelopmental delay, have been reported in affected patients.

View Article and Find Full Text PDF

ALDH Enzymes and Hematological Diseases: A Scoping Review of Literature.

Discov Med

December 2024

Department of Biological Hematology, Tours University Hospital, 37000 Tours, France.

Aldehyde dehydrogenases (ALDHs) constitute a group of enzymes that catalyze the oxidation of aldehydes to carboxylic acids. The human ALDH superfamily, including 19 different isoenzymes (ALDH1A1, ALDH1A2, ALDH1A3, AHDH1B1, ALDH1L1, ALDH1L2, ALDH2, ALDH3A1, ALDH3A2, ALDH3B1, ALDH3B2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDH8A1, ALDH9A1, ALDHA16A1, ALDH18A1), displays different key physiological and toxicological functions, with specific tissue expression and substrate specificity. Several studies have established that ALDH are interesting markers for the identification and quantification of human hematopoietic stem cells and cancer stem cells, notably leukemic stem cells.

View Article and Find Full Text PDF

Mutation of DNMT3A, encoding a de novo methyltransferase essential for cytosine methylation, is a common early event in clonal hematopoiesis (CH) and adult acute myeloid leukemia (AML). Spontaneous deamination of methylated cytosines damages DNA, which is repaired by the base excision repair (BER) enzymes MBD4 and TDG. Congenital MBD4-deficiency has been linked to early-onset CH and AML, and is marked by exceedingly high levels of DNA damage and mutation of DNMT3A.

View Article and Find Full Text PDF

Recent studies have indicated that total body irradiation (TBI)-based reduced-toxicity conditioning (RTC) may be a potential treatment modality, especially in adults with leukemia. However, its efficacy and safety in children with hematological malignancies remain unclear. To investigate the long-term outcomes and safety of allogeneic hematopoietic stem cell transplantation (allo-HSCT) using an 8-Gray (Gy) TBI/fludarabine (FLU)/cyclophosphamide (CY) RTC in children with hematological malignancies.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!