CREST syndrome
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CREST syndrome | |
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Other names | Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome[1] |
CREST syndrome (calcinosis and sclerodactyly) | |
Specialty | Rheumatology |
CREST syndrome, also known as the limited cutaneous form of
CREST syndrome is associated with detectable antibodies against
Signs and symptoms
Calcinosis
CREST causes thickening and tightening of the skin with deposition of calcific nodules ("calcinosis").
Raynaud's phenomenon
Esophageal dysmotility
Presents as a sensation of food getting stuck (dysphagia) in the mid- or lower esophagus, atypical chest pain, or cough. People often state they must drink liquids to swallow solid food. This motility problem results from atrophy of the gastrointestinal tract wall smooth muscle.[3] This change may occur with or without pathologic evidence of significant tissue fibrosis.
Sclerodactyly
Though it is the most easily recognizable manifestation, it is not prominent in all patients. Thickening generally only involves the skin of the fingers distal to the metacarpophalangeal joints in CREST. Early in the course of the disease, the skin may appear edematous and inflamed. Eventually, dermal fibroblasts overproduce extracellular matrix leading to increased tissue collagen deposition in the skin. Collagen cross-linking then causes a progressive skin tightening. Digital ischemic ulcers commonly form on the distal fingers in 30–50% of patients.[3]
Telangiectasias
Marked
Other
Other symptoms of CREST syndrome can be exhaustion, weakness, difficulties with breathing, pain in hands and feet, dizziness and badly healing wounds.
Patients with lcSSc commonly induce pulmonary artery hypertension which may result in
Cause
CREST syndrome involves the production of autoimmune anti-nuclear and anti-centromere antibodies, though their cause is not currently understood. There is no known infectious cause.
Diagnosis
CREST is not easily diagnosed as it closely mimics symptoms of other connective tissue and autoimmune diseases. Diagnoses are usually given when a patient presents two or more of the five major clinical symptoms.
Treatment
Disease progression may be slowed with
Epidemiology
CREST syndrome can be noted in up to 10% of patients with primary biliary cholangitis.[7]
History
The combination of symptoms was first reported in 1964 by R.H. Winterbauer, at that point a medical student at Johns Hopkins School of Medicine.[2]
See also
References
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: CREST syndrome". www.orpha.net. Retrieved 27 April 2019.
{{cite web}}
: CS1 maint: numeric names: authors list (link) - ^ PMID 14171636.
- ^ a b c d Hummers, L.K. "CURRENT Rheumatology Diagnosis & Treatment, 3e". New York: McGraw-Hill. Retrieved 2014-02-20.
- PMID 35359932.
Minor edits by Mikael Häggström, MD
- Attribution 4.0 International (CC BY 4.0) license - ^ "CREST syndrome: MedlinePlus Medical Encyclopedia Image". medlineplus.gov.
- ^ "CREST syndrome - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2018-07-20. Retrieved 2017-12-05.
- S2CID 32716419.