Extensive Mongolian Spots with Facial Involvement associated with Immune Thrombocytopenia and Spina Bifida in a 3-month-old Infant: Case Report

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Abdul Rahman Hussein Shahein
Rasha Tarif Hamza
Heba Elsedfy



Mongolian spot is a common congenital developmental skin lesion. It appears during the first week of life, and most commonly is found on the lower back and buttocks. Extensive forms of mongolian spots, which tend to persist through life, have been reported with inborn errors of metabolism.
Case presentation
We report a 3-month-old male infant presented with extensive mongolian spots involving the face and buccal mucosa. A lesion measured 7 cm x 8 cm and was associated with spina bifida occulta detected incidentally by computerized tomography scan of the abdomen. Idiopathic thrombocytopenic purpura (peripheral thrombocytopenia and hyperplastic megakaryocytes with defective separation) was also diagnosed at the same time and treated with intravenous immunoglobulins.
Mongolian spots occur commonly in infants and further studies of potential associations are warranted.