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Year : 2020  |  Volume : 13  |  Issue : 3  |  Page : 292-293  

Neurocutaneous, phakomatoses, and hamartoneoplastic syndromes: Mnemonic

Department of Neurology; Department of Medicine, Federal University of Santa Maria, Santa Maria, Rio Grande do Sul, Brazil

Date of Submission18-Oct-2019
Date of Decision31-Dec-2019
Date of Acceptance31-Dec-2019
Date of Web Publication3-Jun-2020

Correspondence Address:
Jamir Pitton Rissardo
Rua Roraima, Santa Maria, Rio Grande do Sul
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjdrdypu.mjdrdypu_286_19

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How to cite this article:
Rissardo JP, Caprara AL. Neurocutaneous, phakomatoses, and hamartoneoplastic syndromes: Mnemonic. Med J DY Patil Vidyapeeth 2020;13:292-3

How to cite this URL:
Rissardo JP, Caprara AL. Neurocutaneous, phakomatoses, and hamartoneoplastic syndromes: Mnemonic. Med J DY Patil Vidyapeeth [serial online] 2020 [cited 2021 Oct 19];13:292-3. Available from: https://www.mjdrdypv.org/text.asp?2020/13/3/292/285769

Dear Sir,

We read the article “PHACES syndrome – A rare case report” on Medical Journal of Dr. D. Y. Patil Vidyapeeth with great interest. Das reported a case of a female preschool child presenting with face hemangioma, delayed development, and seizures. The ophthalmologic examination revealed cataract, coloboma, and optic disc hypoplasia. Furthermore, a posterior fossa arachnoid cyst and central nervous system vascular abnormalities were seen. Then, a diagnosis of PHACES syndrome was made.[1]

PHACES syndrome is primarily a cutaneous condition characterized by multiple congenital malformations. PHACES is an acronym of Posterior fossa alterations, facial Hemangioma, Arterial, Cardiac, Eye, and Sternal abnormalities. It is considered a nonhereditary syndrome, and the etiology is not clearly understood. In this context, phakomatoses also known as neuro-oculo-cutaneous syndromes or neurocutaneous disorders are a group of diseases characterized by the involvement of structures that arise from the embryonic ectoderm. We would like to provide a mnemonic to remember PHACES syndrome and the majority of the other neurocutaneous diseases already known in the literature [Table 1] to help in the differential diagnosis of this group. It is worth mentioning that some of the diseases described in [Table 1] are not considered for every author as a phakomatoses.[1],[2],[3],[4],[5]
Table 1: Neurocutaneous disorders mnemonic “NEUROCUTANIOLS PHAKOMATosis”

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  References Top

D'Das S. PHACES syndrome – A rare case report. Med J DY Patil Vidyapeeth 2019;12:524-8.  Back to cited text no. 1
  [Full text]  
Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am 1992;39:591-620.  Back to cited text no. 2
Roach ES, Miller VS, Miller VS. Neurocutaneous disorders. Cambridge University Press; 2004.  Back to cited text no. 3
Ruggieri M, Castroviejo IP, Di Rocco C. Neurocutaneous Disorders: Phakomatoses and Hamartoneoplastic Syndromes.Mörlenbach, Deutschland, Germany: Springer; 2009.  Back to cited text no. 4
Barbagallo JS, Kolodzieh MS, Silverberg NB, Weinberg JM. Neurocutaneous disorders. Dermatol Clin 2002;20:547-60, viii.  Back to cited text no. 5


  [Table 1]


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