Disease

Articles

• Barrett esophagus
  29 October 2003

  Barrett’s oesophagus, Barrett oesophagus, Barrett’s esophagus; Barrett mucosa; Barrett metaplasia; metaplastic endobrachyesophagus
  See also : endobrachyesophagus
  Images
  PAS and Alcian Blue stain in Barrett esophagus
  https://twitter.com/suraksharaob/status/763422410494185472
  http://www.webpathology.com/case.asp?case=185
  adenocarcinoma in Barrett esophagus mucosa
  https://twitter.com/ARP_Press/status/731118754193674240
  Links
  at Johns Hopkins Pathology (...)

• 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 (...)

• Pfeiffer syndrome
  1 December 2004

  acrocephalosyndactyly, Noack syndrome, craniofacial-skeletal- dermatologic dysplasia

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• 7q terminal deletion syndrome
  11 July 2010

  Clinical synopsis
  esophageal stenosis
  growth retardation
  microcephaly
  coloboma of papilla
  ptosis
  hearing loss
  urinary tract anomalies
  partial agenesis of sacrum
  hypotonia
  neuropsychomotor delay
  odontoid hypoplasia
  esophageal stenosis (#20601258#)
  Anomalies
  7q terminal deletion del(7)(q35—>qter) (#20601258#)
  References
  Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin (...)

• 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 (...)

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