Trisomy 8 Mosaicism Syndrome with Pigmentation Anomalies: A Case ReportMine Balasar* and Pembe Oltulu
Department of Medical Genetics, Meram Medical, Necmettin Erbakan University, Konya, Turkey
- Corresponding Author:
- Mine Balasar
Necmettin Erbakan University
Meram Medical, Medical Genetics
Konya, 42080 Turkey
E-mail: [email protected]
Received date: February 17, 2017; Accepted date: February 24, 2017; Published date: March 03, 2017
Citation: Balasar M (2017) Trisomy 8 Mosaicism Syndrome with Pigmentation Anomalies: A Case Report. Pigmentary Disorders 4:258. doi:10.4172/2376-0427.1000258
Copyright: © 2017 Balsar M. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Trisomy 8 Mosaicism syndrome, also known as Warkany syndrome 2, is a rare genetic event with an estimated frequency of about 1:25,000 to 1:50,000 births. Complete trisomy 8 is usually lethal, causing 0.70% of first-trimester abortions. However, mosaic trisomy 8 syndrome has extremely variable phenotypes, with a wide range of clinical manifestations, including cranio-facial dysmorphism, mild to severe intellectual disability, multiple skeletal abnormalities, deep palmar-plantar creases, and cardiac-renal abnormalities. A few cases of skin pigmentary anomalies have also been reported. We report on a 36 year old male case with mosaic trisomy 8. He has mild clinical findings and palmo-plantar hypopigmentation, which appears as a demarcating line between his hands’ dorsal and palmar regions. We report this case to investigate palmo-plantar pigmentation anomalies.