Last reviewed:December 2019
Last updated:January  2020

Summary

Definition

History and exam

Key diagnostic factors

  • vitamin C deficiency upon dietary review
  • constitutional symptoms
  • easy bruising or bleeding
  • gait impairment or leg pain
  • pedal edema
  • petechial and perifollicular hemorrhages (legs and feet)
  • poor wound healing
  • bruising and nodular or black ecchymoses at nontraumatic sites
  • joint swelling
  • oral mucosal petechiae
  • coiled hairs
  • follicular hyperkeratosis
  • tooth loss
  • gingival discoloration
  • gum swelling
  • lid petechiae and hemorrhages
  • proptosis
  • conjunctival and subconjunctival hemorrhage

Other diagnostic factors

  • dysphagia
  • alopecia
  • sicca-like or Sjogren-like syndrome
  • nail clubbing
  • peripheral (entrapment) neuropathy
  • cerebrovascular accident
  • cardiac failure
  • hemorrhagic pleural effusion
  • osteoporosis

Risk factors

  • famine and refugee populations
  • older people
  • living alone
  • psychiatric disorders
  • alcohol use disorder
  • dementia
  • low income
  • atypical diets
  • poor dentition or masticatory inefficiency
  • autistic spectrum disorder
  • static encephalopathies of childhood
  • infants taking only cow's milk
  • end stage renal disease and/or hemodialysis dependence
  • smoking
  • surgery
  • sepsis
  • HIV
  • critical illness
  • acute respiratory distress syndrome
  • pancreatitis
  • graft versus host disease (GVHD)

Diagnostic investigations

Treatment algorithm

Contributors

James M. Noble

Associate Professor of Neurology

Columbia University Irving Medical Center

Department of Neurology

Taub Institute for Research on Alzheimer’s Disease and the Aging Brain

G.H. Sergievsky Center

Columbia University

New York

NY

Disclosures

JMN is an author of two articles cited in this topic.

Marc C. Patterson

Chair

Division of Child and Adolescent Neurology

Professor of Neurology, Pediatrics, and Medical Genetics

Director

Child Neurology Training Program

Mayo Clinic

Rochester

MN

Disclosures

MCP is a member of the scientific advisory boards of the Ara Parseghian Medical Research Foundation, the National Niemann-Pick Disease Foundation, and the Metachromatic Leukodystrophy Foundation. MCP has been a consultant for Actelion, Amicus, IntraBio, Novartis, Orphazyme, Shire, and Vtesse. MCP has undertaken contractual research for Cerecor, Glycomine, Idorsia, and Shire. MCP has stock in IntraBio. MCP has received travel, accommodation or meeting expenses from Actelion, Amicus, Novartis, and Orphazyme.

Peer reviewersVIEW ALL

Endocrinologist

Molecular and Clinical Nutrition Section

Digestive Diseases Branch

National Institute of Diabetes and Digestive and Kidney Diseases

Bethesda

MD

Disclosures

SP declares that he has no competing interests.

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