WordNet

reach a high point; "The river crested last night"
(heraldry) in medieval times, an emblem used to decorate a helmet
a showy growth of e.g. feathers or skin on the head of a bird or other animal
the top line of a hill, mountain, or wave
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

(鳥の)とさか / (かぶとの)前立て,羽根飾り / 山頂,尾根;波がしら;(一般に)絶頂,最上 / 紋章,家紋
(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/09/24 14:10:39」(JST)

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CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc) is a multisystem connective tissue disorder. The acronym "CREST" refers to the five main features: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia.^[1] It is associated with detectable antibodies against centromeres (a component of the cell nucleus), and usually spares the kidneys (a feature more common in the related condition systemic scleroderma). If the lungs are involved, it is usually in the form of pulmonary arterial hypertension.

Signs and symptoms

Calcinosis

CREST/lcSSc causes thickening and tightening of the skin with deposition of calcific nodules ("calcinosis").

Raynaud's phenomenon

Raynaud's phenomenon is frequently the first manifestation of CREST/lcSSc, preceding other symptoms by years. Stress and cold temperature induces an exaggerated vasoconstriction of the small arteries, arterioles, and thermoregulatory vessels of the skin of the digits. Clinically this manifests as a white-blue-red transitions in skin color. Underlying this transition is pallor and cyanosis of the digits, followed by a reactive hyperemia as they rewarm. In contrast to uncomplicated primary Raynaud phenomenon, this occurrence is often painful.^[2] Frequently this phenomenon leads to digital ulcerations, gangrene, or amputation. Ulceration can predispose to chronic infections of the involved site.

Esophageal dysmotility

Presents as a sensation of food getting stuck (dysphagia) in the mid or lower esophagus, atypical chest pain, or cough. Patients often state they must drink liquids to swallow solid food. This motility problem results from atrophy of the gastrointestinal tract wall smooth muscle.^[2] 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 inflammed. Eventually, dermal fibroblasts overproduce extracellular matrix leading to increased tissue collage 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.^[2]

Telangiectasias

Marked telangiectasias (dilated capillaries) occur on the skin of the face, the palmar surface of the hands, and the mucous membranes. Telangiectasias tend to be more numerous in those patients with other scleroderma related vascular disease (i.e., pulmonary arterial hypertension). The number of telangiectasias and the sites involved tend to increase over time.^[2]

Other

Other symptoms of CREST syndrome can be exhaustion, weakness, difficulties with breathing, dizziness and badly healing wounds.

Patients with lcSSc commonly induce pulmonary artery hypertension which may result in cor pulmonale (heart failure due to increased pulmonary artery pressure).

Etiology

Crest syndrome involves the production of autoimmune anti-nuclear and anti-centromere antibodies, though their etiology is not currently understood. There is no known infectious cause.

Treatment

Disease progression may be slowed with immunosuppressives and other medications, and esophageal reflux, pulmonary hypertension and Raynaud phenomenon may benefit from symptomatic treatment. However, there is no cure for this disease as there is no cure for scleroderma in general.

Epidemiology

CREST syndrome can be noted in up to 10% of patients with primary biliary cirrhosis.^[3]

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.^[1]

References

^ ^a ^b Winterbauer RH (1964). "Multiple telangiectasia, Raynaud's phenomenon, sclerodactyly, and subcutanious calcinosis: a syndrome mimicking hereditary hemorrhagic telangiectasia". Bulletin of the Johns Hopkins Hospital 114: 361–83. PMID 14171636.
^ ^a ^b ^c ^d Hummers, L.K. "CURRENT Rheumatology Diagnosis & Treatment, 3e". New York: McGraw-Hill. Retrieved 2014-02-20.
^ Talwalkar, JA; Lindor, KD (Jul 5, 2003). "Primary biliary cirrhosis.". Lancet 362 (9377): 53–61. doi:10.1016/S0140-6736(03)13808-1. PMID 12853201.

UpToDate Contents

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1. 成人における全身性硬化症（強皮症）の診断および鑑別診断 diagnosis and differential diagnosis of systemic sclerosis scleroderma in adults
2. 成人における全身性硬化症（強皮症）の臨床症状の概要 overview of the clinical manifestations of systemic sclerosis scleroderma in adults
3. 強皮症の分類 classification of scleroderma disorders
4. 全身性硬化症（強皮症）の消化器症状 gastrointestinal manifestations of systemic sclerosis scleroderma
5. 無症候性頸動脈アテローム性動脈硬化症の管理 management of asymptomatic carotid atherosclerotic disease

English Journal

A spontaneous and novel Pax3 mutant mouse that models Waardenburg syndrome and neural tube defects.

Ohnishi T1, Miura I2, Ohba H3, Shimamoto C3, Iwayama Y3, Wakana S2, Yoshikawa T3.
Gene.Gene.2017 Apr 5;607:16-22. doi: 10.1016/j.gene.2016.12.037. Epub 2016 Dec 30.
BACKGROUND: Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency.OBJECTIVE: In
PMID 28043919

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

Kline AD1, Krantz ID2,3, Deardorff MA2,3, Shirahige K4, Dorsett D5, Gerton JL6, Wu M7, Mehta D2, Mills JA2, Carrico CS8, Noon S2, Herrera PS2, Horsfield JA9, Bettale C2, Morgan J10, Huisman SA11, Moss J12, McCleery J13, Grados M14, Hansen BD15, Srivastava S16, Taylor-Snell E17, Kerr LM18, Katz O2, Calof AL19, Musio A20, Egense A21, Haaland RE22.
American journal of medical genetics. Part A.Am J Med Genet A.2017 Feb 12. doi: 10.1002/ajmg.a.38161. [Epub ahead of print]
Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are m
PMID 28190301

Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Terrazas K1, Dixon J2, Trainor PA1,3, Dixon MJ2.
Wiley interdisciplinary reviews. Developmental biology.Wiley Interdiscip Rev Dev Biol.2017 Feb 10. doi: 10.1002/wdev.263. [Epub ahead of print]
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells, which generate most of the bone and cartilage of
PMID 28186364

Japanese Journal

臨床室 CREST症候群に伴った小指calcinosis circumscriptaの1例

南野光彦,澤泉卓哉,小寺訓江 [他]
整形外科 = Orthopedic surgery 64(11), 1182-1184, 2013-10
NAID 40019810076

Establishment and characterization of Roberts syndrome and SC phocomelia model medaka (Oryzias latipes)

MORITA Akihiro,NAKAHIRA Kumiko,HASEGAWA Taeko,UCHIDA Kaoru,TANIGUCHI Yoshihito,TAKEDA Shunichi,TOYODA Atsushi,SAKAKI Yoshiyuki,SHIMADA Atsuko,TAKEDA Hiroyuki,YANAGIHARA Itaru
Development, growth & differentiation 54(5), 588-604, 2012-06-01
NAID 10031136928

研究・症例胸膜炎を合併したCREST症候群の1例

林正周,岡島正明,清水崇 [他]
日本胸部臨床 71(5), 478-486, 2012-05
NAID 40019314036

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