Disease

Articles

• 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

• cystic fibrosis
  27 June 2003

  mucoviscidosis

• 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 (...)

• 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 (...)

• lichen planus
  16 June 2004

  WKP
  Definition: Lichen planus is a papulosquamous disease. In its classical presentation, it is characterized by pruritic violaceous papules most commonly on the extremities of middle-aged adults. It may or may not be accompanied by oral and genital mucous membrane involvement. Its course is generally self-limited for a period of several months to years, but it may last indefinitely.
  There are many clinical variants described, ranging from lichenoid drug eruptions to association with (...)

• 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

• 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)

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• linear IgA bullous dermatosis
  29 June 2004

  CLINICAL FEATURES:
  childhood onset within 5-6 years of birth (chronic bullous disease of childhood)
  adult onset in 6-8th decades
  often antecedent infection
  annular erythemaous patches with tense blisters at edges
  trunk and extremities most often affected
  HISTOPATHOLOGICAL FEATURES:
  subepidermal blister
  neutrophils linearly aligned along dermal-epidermal junction
  papillary dermal edema
  occasional eosinophils
  IMMUNOFLUORESCENCE:
  linear IgA and C3 (...)

• granuloma annulare
  15 June 2004

  Annular granuloma PO
  Definition: Granuloma annulare (GA) is a benign inflammatory, self-limiting granulomatous dermatoses that is seen in both adults and children . Females are more commonly affected than males. The lesions may involve skin and/or subcutaneous tissue. The etiology of GA is unknown.
  Granuloma annulare is a dermatosis, usually self-limited, of unknown etiology and characterized by necrobiotic (collagenolytic) dermal papules that often assume an annular configuration. (...)

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