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Rovner

GENODERMATOSES

  1. Ichthyoses
      1. Genetically determined conditions with thick scaling plates
      2. Two mechanisms:
        1. Increased cohesiveness (I. vulgaris, X-Linked Ich).
        2. Increased cellular production (lamellar Ich., epidermolytic hyperkeratosis)
      3. Infants often present with membrane ("colloidian baby")
      4. Symptoms:
        1. pruritus
        2. cosmesis
        3. bacterial 20 infections
        4. odor
        5. ectropion
        6. fluid, electrolyte imbalance
      5. Treatment:
        1. antibiotics
        2. moisturization (LacHydrin)
  2. Neurofibromatosis (von Recklinghausen's)
    1. Autosomal dominant
    2. cafe-au-lait macules (at least 6 greater than 1 cm.)
    3. neurofibromas
      1. typical
      2. plexiform-may eventuate in neurosarcoma
    4. pheochromocytoma
    5. acoustic neuroma
    6. **Crowe's sign--axillary freckling
    7. **Lisch nodules
  3. Tuberous Sclerosis
    1. Autosomal dominant
    2. Ash leaf macules
    3. Adenoma sebaceum (angiofibromas)
    4. **Shagreen patch
    5. mental retardation
  4. Peutz Jaegher's
    1. Autosomal dominant
    2. Multiple lentigines
    3. Small intestinal polyps (pre adenocarcinomatous)
  5. Gardiner's
    1. Autosomal dominant
    2. multiple cysts
    3. colonic polyps (premalignant)
  6. Osler-Weber-Rendu
    1. Autosomal dominant
    2. Familial hemorrhagic telangiectasia
    3. Telangiectases on lips, oral mucosa, skin
    4. Bleeding from CNS, GI tract