Are You Confident of the Diagnosis? What you should be alert for in the history CS can be diagnosed from a comprehensive history and physical exam. Patients are often normal at birth. Failure to grow appropriately, cachexia, characteristic facies, premature aging, and other clinical characteristics on exam as noted above together are suggestive of CS.…
Are You Confident of the Diagnosis? What you should be alert for in the history The diagnosis of lymphedema (LE) can be made with confidence from a thorough history and physical examination. The physical findings of edema, a peau d’orange appearance to the affected skin, cutaneous fibrosis, and a positive “Kaposi-Stemmer sign” (the inability to…
Are You Confident of the Diagnosis? What you should be alert for in the history Werner syndrome (WS) is a type of progeroid syndrome characterized by the development of premature aging. It is often referred to as progeria of adults with average age of diagnosis in the 30’s. Characteristic findings on physical examination On physical…
Are You Confident of the Diagnosis? What you should be alert for in the history Trichothiodystrophy (TTD) is a rare genetic disease characterized by a spectrum of clinical features, ranging from only hair involvement to severe developmental and neurological abnormalities. Many clinicians regard TTD as a clinical and biochemical feature that may be found in…
Are You Confident of the Diagnosis? What you should be alert for in the history Xeroderma pigmentosum (XP) is a rare genetic disease characterized by a spectrum of clinical phenotypes ranging from mild almost asymptomatic disease to severe sensitivity to ultraviolet radiation and neurological deficits. Typically, patients with XP develop significant sun damage to sun…
