IRANDERMA 

Quiz: April 2008


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What is your diagnosis for this 22-year-old woman?

 She had also mucosal pigmentations but no pigmentation in other areas....

 

 

 

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Diagnosis: Peutz-Jeghers Syndrome 

  • Autosomal dominant or sporadic

    STK11 gene (serine-threonine, protein kinase) tumor suppressor gene

    Presents in childhood

    Clinical findings

    Lentigines on mucosa, perorificial skin, palms and digits

    Gasterointestinal hamartomatous polyps (More common in small intestine) may cause bleeding, pain, intussuception, obstruction, adenocarcinoma

    Ovarian cancer  is the most common malignancy

    Breast cancer, pancreatic cancer

    Diagnosis:

    monitor with colonoscopy, polypectomy

    Course:

    normal lifespan malignancy detected early

    Benign gastrointestinal polyps

    Oral and labial melanotic macules: can be associated with LEOPARD syndrome (Lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormal genetalia, retardation of growth, and deafness

    Laugier-Hunziker syndrome: absence of intestinal polyps

    Histology:

    mild acanthosis and hyperpigmentation of basal layer

    Treatment:

    cryosuergery (melanocytes freeze at -4 to -7 degree centigrade, laser, tretinoin, chemical pee)


    Comment by; Dr. Mehrdad Mehravaran, Szeged, Hungary:

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