Disease

Articles

• Denys-Drash syndrome
  11 February 2004

  Ent. 1967
  Synospsis
  diffuse mesangial sclerosis (DMS)
  male sex reversal (male pseudohermaphrosim)
  Etiology
  constitutional punctual mutations in the WT1 gene (zing-fingers)
  References
  Management of Wilms tumors in Drash and Frasier syndromes. Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S. Pediatr Blood Cancer. 2009 Jan;52(1):55-9. PMID: #18816692#
  Case report: WT1 exon 6 truncation mutation and ambiguous (...)

• sickle cell disease
  31 May 2003

  Sickle cell anemia lesions in liver, sickle cell hemoglobinopathy, HbS, Sickle cell disease, sickle cell trait ; sickle cell anemia ; SCD
  Definition: Sickle cell anemia is caused by substitution of normal hemoglobin (HbA) by hemoglobin S (HbS). When an individual is homozygous for the mutant gene, all the hemoglobin is of the abnormal, HbS, type, and even with normal saturation of oxygen, the disorder is fully expressed (i.e., sickling deformity of all red cells and hemolytic anemia). (...)

• parapsoriasis
  15 June 2011

  WKP
  Definition : Parapsoriasis refers to one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying cause. The word "parapsoriasis" was formed in 1902.
  Types
  large-plaque parapsoriasis
  small-plaque parapsoriasis
  pityriasis lichenoides pityriasis lichenoides chronica pityriasis lichenoides et varioliformis acuta
  lymphomatoid papulosis
  Digital slides
  UI: - Parapsoriasis
  See (...)

• Cowden disease
  2 November 2004

  multiple hamartoma syndrome, Cowden syndrome; PTEN hamartoma tumor syndrome (PHTS).
  Definition: Cowden syndrome is a rare autosomal dominant condition named after the Cowden family in which it was initially documented.
  Images
  Digestive hamartomas with neural and fatty elements, lymphoid aggs
  https://twitter.com/CArnold_GI/status/830854075944144898
  Manifestations of the syndrome include gastrointestinal, oral and cutaneous hamartomas, tumors of breast and thyroid, autoimmune (...)

• plasma cell dyscrasia
  12 December 2003

  Notes
  https://twitter.com/pathodoodles/status/1346450979135356935
  See also
  plasma cell
  dyscrasia

• Bart-Pumphrey syndrome
  25 May 2005

  Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability.
  Nosological overlaps
  Vohwinkel syndrome
  Keratitis-Ichthyosis-Deafness syndrome
  Etiology
  dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26
  References
  Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic spectrum of Cx26 (...)

• mumps
  11 June 2003

  Like measles virus, mumps virus is a member of the paramyxovirus family. Mumps virus has two types of surface glycoproteins, one with hemagglutinin and neuraminidase activities and the other with cell fusion and hemolytic activities.
  Mumps viruses enter the upper respiratory tract through inhalation of respiratory droplets, spread to draining lymph nodes where they replicate in lymphocytes (preferentially in activated T cells), and then spread through the blood to the salivary and other (...)

• progressive familial intrahepatic cholestasis type 3
  4 June 2003

  PFIC-3

• pipecolic acidemia
  26 March 2010

  Pipecolic acidemia (also called "hyperpipecolic acidemia" or "hyperpipecolatemia") is a very rare metabolic disorder that is caused by a peroxisomal defect.
  It is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
  It can be associated with Refsum disease.
  See also
  PHYH
  References
  Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM (October 1993). A new peroxisomal disease with impaired phytanic and pipecolic (...)

• del(17)(p13.3)
  29 September 2003

  17p13.3 deletion

0 | ... | 20 | 30 | 40 | 50 | 60 | 70 | 80 | 90 | 100 | ... | 1050