Disease

Articles

• fibroepithelial polyp
  17 June 2003

  skin tag, acrochordon, skin tags, soft fibromas, fibroepithelial polyps, FEP, fibroma pendulans, pedunculated fibromas, soft warts; molluscum pendulum
  Definition: Epithelial polyps are common fibroepithelial protuberant neoplasms that occur with advancing age predominantly on the trunk, head, and neck.
  The fibroepithelial polyp is perhaps the most common cutaneous neoplasm. Variously termed skin tag, acrochordon, and squamous papilloma (a misnomer in that these are polypoid and formed by (...)

• Griscelli disease
  17 September 2003

  Griscelli syndrome

• chronic granulomatous disease
  3 October 2003

  CGD

• osteogenesis imperfecta
  26 May 2004

  Autosomal dominant disease.
  Synopsis
  systemic anomalies
  perinatal death
  premature birth
  nonimmune hydrops
  low birth weight
  ocular anomalies
  blue sclerae
  craniofacial anomalies
  beaked nose
  large fontanelles
  platyspondyly
  skeletal anomalies
  short limb dwarfism
  beaded ribs
  numerous multiple fractures present at birth
  soft calvaria
  absent calvarial mineralization
  hips usually flexed and abducted (frog-leg position)
  flattened acetabulae and iliac wings (...)

• Goldberg-Shprintzen syndrome
  25 June 2005

  Definition: Goldberg-Shprintzen syndrome associates microcephaly, mental retardation, Hirschsprung disease, bilateral generalized polymicogyria.
  The Goldberg-Shprintzen syndrome is an autosomal recessive MCA-MR syndrome combining Hirschsprung disease, moderate mental retardation, microcephaly, polymicrogyria, facial dysmorphic features (hypertelorism, prominent nose, synophrys, sparse hair), cleft palate and iris coloboma.
  GSS is a rare condition within the group of patients with MR and (...)

• cutaneous lupus erythematosus
  17 June 2004

  Digital case
  JRC:10585 : Cutaneous lupus erythematosus.
  Images
  40F Asia x 10yrs, plenty of sun exposure. https://twitter.com/globaldermie/status/734923070532681732
  SUBTYPES
  systemic lupus erythematosus
  subacute cutaneous lupus erythematosus
  discoid lupus erythematosus
  neonatal lupus erythematosus
  DIFFERENTIAL
  dermatomyositis
  Sjogren syndrome
  lupus-like drug reactions
  polymorphous light eruptions
  Jessner’s lymphocytic infiltrate
  lichenoid actinic (...)

• Alagille disease
  31 May 2003

  Alagille’s syndrome, arteriohepatic dysplasia, syndromic paucity of interlobular bile ducts

• short rib-polydactyly syndromes
  26 May 2004

  short rib-polydactyly syndrome group, SRPSs

• short-rib polydactyly syndrome type 3
  17 May 2006

  SRPS type III, Verma-Naumoff type, polydactyly with neonatal chondrodystrophy type III, SRPS3, short-rib polydactyly syndrome type III

• Kartagener syndrome
  24 November 2004

  Siewert syndrome

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