Peutz-Jeghers syndrome in dermatology.

We describe Peutz-Jeghers syndrome in a girl 4 years 7 months old. Initially, the child was diagnosed with vitiligo due to complaints of depigmentation of the skin of the face and hands. During re-examination after half a year, foci of hyperpigmentation on the lip and mucous membranes of the oral cavity were noted. Esophagogastroduodenoscopy showed the presence of a polypous lump in the stomach. Genetic consultation confirmed the diagnosis of Peutz-Jeghers syndrome. The absence of family history indicates a sporadic case characterized by diseases with an autosomal-dominant mode of inheritance. This clinical case demonstrates the need for gastroenterological and genetic examinations in the presence of lesions on the oral mucosa and the vermillion border of the lips to confirm or exclude Peutz-Jeghers syndrome. PMID: 31545393 [PubMed - in process]
Source: Acta Dermatovenerologica Alpina, Panonica, et Adriatica - Category: Dermatology Tags: Acta Dermatovenerol Alp Pannonica Adriat Source Type: research