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Neonatal acrocyanosis

MedGen UID:
473168
•Concept ID:
C0456013
•
Disease or Syndrome
Synonyms: Neonatal Acrocyanosis; Perinatal acrocyanosis
SNOMED CT: Neonatal acrocyanosis (206324006); Perinatal acrocyanosis (206324006)

Definition

Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal acrocyanosis

Recent clinical studies

Etiology

Unexpected episodes of cyanosis in late preterm and term neonates prompted admission to a neonatal care unit.
Dani C, Drovandi L, Bertini G, Poggi C, Pratesi S
Ital J Pediatr 2017 Apr 14;43(1):35. doi: 10.1186/s13052-017-0349-9. PMID: 28410603Free PMC Article
Diseases of abnormal sensitivity to cold in children on psychostimulant drugs.
Coulombe J, Powell J, Hatami A, McCuaig C, Renet S, Marcoux D
J Cutan Med Surg 2015 Mar-Apr;19(2):121-4. Epub 2015 Mar 11 doi: 10.2310/7750.2014.14052. PMID: 25775630

Diagnosis

Myocardial infarction in a neonate with severe hypertrophic cardiomyopathy: a case report.
Ghandi Y, Alinejad S, Akhondzadeh A, Akbari M
Future Cardiol 2023 Jun;19(7):375-381. Epub 2023 Aug 4 doi: 10.2217/fca-2022-0130. PMID: 37539705
Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.
Tao Y, Han D, Li X, Wang L, Yue L, Huang C, Lu D, Li X
Clin Chim Acta 2020 Oct;509:8-17. Epub 2020 May 30 doi: 10.1016/j.cca.2020.05.051. PMID: 32485156
Unexpected episodes of cyanosis in late preterm and term neonates prompted admission to a neonatal care unit.
Dani C, Drovandi L, Bertini G, Poggi C, Pratesi S
Ital J Pediatr 2017 Apr 14;43(1):35. doi: 10.1186/s13052-017-0349-9. PMID: 28410603Free PMC Article
Clinical profile of Chikungunya in infants.
Valamparampil JJ, Chirakkarot S, Letha S, Jayakumar C, Gopinathan KM
Indian J Pediatr 2009 Feb;76(2):151-5. Epub 2009 Mar 28 doi: 10.1007/s12098-009-0045-x. PMID: 19330303
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro.
Franceschini F, Calzavara-Pinton P, Valsecchi L, Quinzanini M, Zane C, Facchetti F, Airò P, Cattaneo R
Adv Exp Med Biol 1999;455:167-71. doi: 10.1007/978-1-4615-4857-7_24. PMID: 10599339

Therapy

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.
Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE
Mol Genet Metab 2018 May;124(1):57-63. Epub 2018 Feb 14 doi: 10.1016/j.ymgme.2018.02.008. PMID: 29526615
Diseases of abnormal sensitivity to cold in children on psychostimulant drugs.
Coulombe J, Powell J, Hatami A, McCuaig C, Renet S, Marcoux D
J Cutan Med Surg 2015 Mar-Apr;19(2):121-4. Epub 2015 Mar 11 doi: 10.2310/7750.2014.14052. PMID: 25775630

Prognosis

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.
Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE
Mol Genet Metab 2018 May;124(1):57-63. Epub 2018 Feb 14 doi: 10.1016/j.ymgme.2018.02.008. PMID: 29526615
Unexpected episodes of cyanosis in late preterm and term neonates prompted admission to a neonatal care unit.
Dani C, Drovandi L, Bertini G, Poggi C, Pratesi S
Ital J Pediatr 2017 Apr 14;43(1):35. doi: 10.1186/s13052-017-0349-9. PMID: 28410603Free PMC Article
Chikungunya and Neonatal Immunity: Fatal Vertically Transmitted Chikungunya Infection.
Evans-Gilbert T
Am J Trop Med Hyg 2017 Apr;96(4):913-915. Epub 2017 Feb 6 doi: 10.4269/ajtmh.16-0491. PMID: 28167590Free PMC Article
Diseases of abnormal sensitivity to cold in children on psychostimulant drugs.
Coulombe J, Powell J, Hatami A, McCuaig C, Renet S, Marcoux D
J Cutan Med Surg 2015 Mar-Apr;19(2):121-4. Epub 2015 Mar 11 doi: 10.2310/7750.2014.14052. PMID: 25775630
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.
Grosso S, Mostardini R, Farnetani MA, Molinelli M, Berardi R, Dionisi-Vici C, Rizzo C, Morgese G, Balestri P
J Neurol 2002 Oct;249(10):1446-50. doi: 10.1007/s00415-002-0880-4. PMID: 12382164

Clinical prediction guides

Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.
Tao Y, Han D, Li X, Wang L, Yue L, Huang C, Lu D, Li X
Clin Chim Acta 2020 Oct;509:8-17. Epub 2020 May 30 doi: 10.1016/j.cca.2020.05.051. PMID: 32485156
Chikungunya and Neonatal Immunity: Fatal Vertically Transmitted Chikungunya Infection.
Evans-Gilbert T
Am J Trop Med Hyg 2017 Apr;96(4):913-915. Epub 2017 Feb 6 doi: 10.4269/ajtmh.16-0491. PMID: 28167590Free PMC Article
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.
Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H
Proc Natl Acad Sci U S A 2011 Mar 29;108(13):5372-7. Epub 2011 Mar 14 doi: 10.1073/pnas.1014265108. PMID: 21402907Free PMC Article
Clinical profile of Chikungunya in infants.
Valamparampil JJ, Chirakkarot S, Letha S, Jayakumar C, Gopinathan KM
Indian J Pediatr 2009 Feb;76(2):151-5. Epub 2009 Mar 28 doi: 10.1007/s12098-009-0045-x. PMID: 19330303
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro.
Franceschini F, Calzavara-Pinton P, Valsecchi L, Quinzanini M, Zane C, Facchetti F, Airò P, Cattaneo R
Adv Exp Med Biol 1999;455:167-71. doi: 10.1007/978-1-4615-4857-7_24. PMID: 10599339

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