Dermatology

Are You Confident of the Diagnosis? What you should be alert for in the history There are no salient clinical features specific for fibrosarcoma. Most patients lack constitutional symptoms; however, those with larger tumors or those with metastatic disease may have weight loss. The pediatric variant, infantile fibrosarcoma, also presents as a painless mass of…

Are You Confident of the Diagnosis? Soft fibromas are the most common fibrous lesions of the skin. Lesions are most commonly located on the neck and the intertriginous areas of the axilla and groin, but can be found scattered throughout the skin. Characteristic findings on physical examination Patients present with slow-growing asymptomatic flesh-colored or brown-red…

Are You Confident of the Diagnosis? What you should be alert for in the history Favre-Racouchot disease (FRD) is named after Favre and Racouchot, who described these lesions in 1932 and 1951, respectively. Clinical history is significant for extensive ultraviolet light exposure. Characteristic findings on physical examination Clinical presentation consists of a slow and gradual…

Are You Confident of the Diagnosis? What you should be alert for in the history Familial Mediterranean Fever (FMF) is a monogenetic autoinflammatory disease that is characterized by periodic fevers and multisystemic inflammation. The diagnosis is frequently made clinically in countries where the disease is relatively common, although additional genetic testing is useful for confirmation.…

Are You Confident of the Diagnosis? What you should be alert for in the history Familial dysautonomia (FD) is an autosomal recessive disorder characterized by autonomic and sensory dysfunction. It is classified as a hereditary sensory and autonomic neuropathy (HSAN type III), and is also known as Riley-Day syndrome, which was named for the two…

Are You Confident of the Diagnosis? Familial cutaneous leiomyomatosis (FCL) is an autosomal dominant genetic disease. It presents with cutaneous and uterine leiomyomas and is associated with the development of renal cancer. Characteristic findings on physical examination See the Leiomyoma chapter for a description of leiomyomas. Typically multiple pink-to-red dermal papules and nodules with minimal…

Are You Confident of the Diagnosis? What you should be alert for in the history Fabry disease is an X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme α-galactosidase A (α-Gal A) and the progressive accumulation of its primary glycolipid substrate, globotriaosylceramide (GL-3). Although GL-3 accumulates in most cell types to varying…