Journal of Dermatology and Dermatologic Diseases

Pembe Oltulu

Publications

• Case Report
  Trisomy 8 Mosaicism Syndrome with Pigmentation Anomalies: A Case Report
  Author(s): Mine Balasar and Pembe OltuluMine Balasar and Pembe Oltulu
  
  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... Read More»
  DOI: 10.4172/2376-0427.1000258

  Abstract PDF