A 6 Years Old Male with Multiple Black Spots on Face
Lentigens may be an isolated presentation with merely a cosmetic concern or may be one of the inherited conditions with systemic associations with prognostic implications. A child who presented with early onset mucocutaneous macular pigmentation and abdominal pain and rectal bleeding, upon detailed evaluation was clinically diagnosed as a case of Peutz-Jegher’s syndrome. Peutz-Jegher’s syndrome is a familial condition due to mutation in serine/threonine kinase II gene mutation. The hallmark findings are the presence of lentigens on skin of face and oral mucosa with intestinal and extraintestinal polyps with associated anaemia, haematemesis, malaena, haematochezia and risk of intestinal obstruction, colorectal and other intestinal and extraintestinal malignancies. Detailed clinical examination, genetic testing and imaging studies for screening of malignancies are the major parts of management.
KeywordsChildhood lentiginosis Familial lentiginosis syndrome Mucocutaneous pigmentation Serine/threonine kinase II gene mutation Gastrointestinal polyp Malignancies
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