Perioral pigmentation: what is your diagnosis?
Pigmented spots in the skin and mucosa (lentigines) can be found in various diseases called familial lentiginosis syndromes; Peutz-Jeghers syndrome (PJS) is one of them. It is characterized by the association of mucocutaneous melanin pigmentation and hamartomatous gastrointestinal polyps. Patients with PJS are at increased risk of intussusception and cancer development (gastrointestinal and non-gastrointestinal tumors). We present a 5-year-old girl with pigmented macules of perioral and perinasal skin, lips, and buccal mucosa and review lentiginoses and the surveillance of PJS.
Patrícia
Santos
S
Hospital Pedro Hispano, Portugal. patriciajuliopt@yahoo.com.br
Cláudia
Neto
N
Susana
Machado
M
Inês
Lobo
L
José
Soares
S
Manuela
Selores
S
D000091162:AMP-Activated Protein Kinase Kinases; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005148:Facial Dermatoses / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007414:Intestinal Neoplasms / Q000517:prevention & control; D007417:Intestinal Polyps / Q000235:genetics; D007438:Introns / Q000235:genetics; D008548:Melanosis / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D009061:Mouth Mucosa / Q000473:pathology*; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases