Disease

Articles

• Hirschsprung disease
  6 October 2003

  Hirschsprung’s disease, congenital intestinal aganglionosis, digestive aganglionnosis; digestive aganglionoses PO1 PO2
  Definition: Aganglionic megacolon is associated with congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. The disorder is genetically heterogeneous.
  Digital cases
  HPC:90 : rectal mucosa biopsies
  HPC:98 : rectal mucosa biopsies
  HPC:151 : Hirschsprung disease - Rectal (...)

• juvenile nephronophthisis
  27 October 2003

  Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
  Synopsis
  medullary cystic disease renal medullary cysts renal corticomedullary cysts renal interstitial fibrosis renal tubular atrophy relatively spared glomeruli
  nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis
  Variants (...)

• extralobar pulmonary sequestration
  29 October 2003

  extra-pulmonary sequestration ; ELPS
  Definition: Extralobar pulmonary sequestration (ELPS) are segmentsof lung tissue ("accessory lungs") with a distinct pleural investment and complete anatomic and physiologic seprartion from the normal lung. Blood supply is usually by anomalous systemic artery with venous drainage into the azygos or hemizygos system.
  The abnormal tissue may be located either above or below the diaphragm, most often on the left side.
  Images
  Extrapulmonary (...)

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• Hashimoto thyroiditis
  12 January 2006

  Hashimoto’s thyroiditis; Struma lymphomatosa (lymphocytic thyroiditis); chronic lymphocytic thyroiditis, Hashimoto thyroiditis, thyroid autoimmunity
  Definition: Hashimoto thyroiditis (or chronic lymphocytic thyroiditis) is the most common cause of hypothyroidism in areas of the world where iodine levels are sufficient. It is characterized by gradual thyroid failure because of autoimmune destruction of the thyroid gland.
  Images
  Cytology FNA : (...)

• focal nodular hyperplasia
  29 May 2003

  focal nodular hyperplasia of the liver, hepatic focal nodular hyperplasia, FNH (previous denomination: benign hepatoma, solitary hyperplastic nodule, focal sclerosis, hamartomatous cholangiohepatoma, mixed adenoma)

• asthma
  12 November 2003

  Definition: Asthma is a chronic respiratory condition that affects children and adults. Genetic predisposition and environmental factors interact to produce the disease.
  Images
  Asthma; airway parietal edema , smooth muscle hyperplasia , mucus gland hyperplasia
  https://twitter.com/H_Elshoni/status/747268830955593729
  Types
  acute asthma
  chronic asthma
  Synopsis
  mucus plugs
  mucosal eosinophilic infiltrate
  mucosal basement membrane thickening with sunmembranous collagen (...)

• hemophagocytic lymphohistiocytosis
  22 February 2005

  FHLs, HPLH, HLH, familial erythrophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytoses
  Definition: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, fatal disorder of early infancy.
  Images
  hepatic erythrophagocytosis in hemophagocytic lymphohistiocytosis
  https://twitter.com/GIPathologyURMC/status/889533077118214144
  See also
  erythrophagocytosis
  hepatic erythrophagocytosis
  Hemophagocytic (...)

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• dermatitis herpetiformis
  29 June 2004

  herpetiform dermatitis
  Definition: Dermatitis herpetiformis is characterized by papules, vesicles, and occasional bullae on an erythematous, often urticarial base.
  Dermatitis herpetiformis is associated with gluten-sensitive enteropathy. It causes small pruritic vesicles.
  Histologically it shows papillary neutrophilic microabscesses and a mixed dermal inflammatory infiltrate. DIF shows a granular pattern of IgA in the dermal papillae.
  Digital cases
  UI:924 - Dermatitis herpetiformis (...)

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