Disease

Articles

• tuberous sclerosis
  15 December 2003

  Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis

• androgen insentivity syndrome
  13 June 2003

  AIS, Reifenstein’s syndrome, complete androgen insensitivity

• chronic synovitis in Lyme disease
  18 January 2010

  Images
  Chronic Synovitis in Lyme Disease (WebPathology)
  Definition: Lyme disease is a multisystems infectious disorder caused by the spirochete, Borrelia burgdorferi. Infection occurs by ticks feeding on mammalian hosts, including humans. The distribution of the tick and spirochete is world-wide and is especially prevalent where there are large deer populations.
  Stages
  The disease is seen in three stages:
  Stage I is a cutaneous rash (erythema chronicum migrans) consisting of (...)

• childhood asymmetric labium majus enlargement
  14 September 2005

  Childhood asymmetric labium majus enlargement (CALME) couldrepresent 22% of all pediatric vulvar soft tissue masses and 3% of all vulvar lesions biopsied. It is a distinctive clinicopathologic entity of pre- and early puberty.
  Synopsis
  Age range: 3.9 to 13.2 years
  enlargement of 1 or occasionally both labia majora
  expansion of the labium majus without definable borders
  fibro-fatty tissue from 2 to 8 cm in greatest dimension
  usual constituents of vulvar soft tissue, with expansion (...)

• Barth syndrome
  22 October 2004

  3-alphamethylglutaconicaciduria type II, MGA type II, type II X-linked 3-methylglutaconicaciduria, BTHS, X-linked cardioskeletal myopathy and neutropenia

• Huntington disease
  22 September 2003

  Huntington’s disease, Huntington’s chorea

• incomplete androgen insensitivity
  13 June 2003

  Macroscopical synopsis:
  male phenotype with cryptorchidism
  clitoromegaly
  posterior labial fusion

• schizophrenia
  22 September 2003

  Schizophrenia, which affects about 1.5 percent of the U.S. population, can result in a variety of symptoms that include disrupted thinking, hallucinations, delusions and abnormal speech. The disease is thought to have genetic links but usually does not manifest itself until adolescence or early adulthood.
  Genetics
  Initial gene links for schizophrenia were reported nearly a decade ago, after researchers at Julius-Maximilian University of Würzburg in Germany found a common mutation on the (...)

• campomelic dysplasia
  14 January 2005

  campomelic dysostosis, camptomelic dysplasia, camptomelic syndrome, campomelic dwarfism

• Fryns syndrome
  17 May 2004

  variable multiple congenital anomaly syndrome, MCA syndrome

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