Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex

Anthony Vandersteen; Jess Turnbull; Wajanat Jan; John Simpson; Sebastian Lucas; David Anderson; Jean Pierre Lin; Constantine Stratakis; Gabriella Pichert; Ming Lim

doi:10.1007/s00431-009-0935-y

Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex

Anthony Vandersteen, Jess Turnbull, Wajanat Jan, John Simpson, Sebastian Lucas, David Anderson, Jean Pierre Lin, Constantine Stratakis, Gabriella Pichert, Ming Lim^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Abstract

We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses, which were resected. Histological examination confirmed multiple atrial myxomas. Further clinical examination of the patient revealed subtle buccal and peri-oral lentigenes. The diagnosis of Carney complex was made clinically. The patient was subsequently diagnosed with testicular seminomas and a cutaneous angiomyxoma. Genetic investigation revealed a pathological mutation in the PRKAR1A gene. We review the reported manifestations and presentations of Carney complex, along with current diagnostic guidelines. We emphasise the importance of recognising the cutaneous manifestations of this rare autosomal dominantly inherited neoplasia syndrome.

Original language	English
Pages (from-to)	1401-1404
Number of pages	4
Journal	European Journal of Pediatrics
Volume	168
Issue number	11
DOIs	https://doi.org/10.1007/s00431-009-0935-y
Publication status	Published - 2009
Externally published	Yes

Bibliographical note

Funding Information:
Acknowledgement This work was supported in part by the National Institutes of Health, Eunie Kennedy Shriver National Institute of Child Health & Human Development intramural project Z01-HD-000642-04 to Dr. C.A. Stratakis. We thank the medical photographers at Guy’s and St. Thomas’ NHS Foundation Trust.

Keywords

Atrial myxoma
Carney complex
Cutaneous lentiginosis
Stroke

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10.1007/s00431-009-0935-y

Cite this

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title = "Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex",

abstract = "We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses, which were resected. Histological examination confirmed multiple atrial myxomas. Further clinical examination of the patient revealed subtle buccal and peri-oral lentigenes. The diagnosis of Carney complex was made clinically. The patient was subsequently diagnosed with testicular seminomas and a cutaneous angiomyxoma. Genetic investigation revealed a pathological mutation in the PRKAR1A gene. We review the reported manifestations and presentations of Carney complex, along with current diagnostic guidelines. We emphasise the importance of recognising the cutaneous manifestations of this rare autosomal dominantly inherited neoplasia syndrome.",

keywords = "Atrial myxoma, Carney complex, Cutaneous lentiginosis, Stroke",

author = "Anthony Vandersteen and Jess Turnbull and Wajanat Jan and John Simpson and Sebastian Lucas and David Anderson and Lin, {Jean Pierre} and Constantine Stratakis and Gabriella Pichert and Ming Lim",

note = "Funding Information: Acknowledgement This work was supported in part by the National Institutes of Health, Eunie Kennedy Shriver National Institute of Child Health & Human Development intramural project Z01-HD-000642-04 to Dr. C.A. Stratakis. We thank the medical photographers at Guy{\textquoteright}s and St. Thomas{\textquoteright} NHS Foundation Trust.",

year = "2009",

doi = "10.1007/s00431-009-0935-y",

language = "English",

volume = "168",

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journal = "European Journal of Pediatrics",

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T1 - Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex

AU - Vandersteen, Anthony

AU - Turnbull, Jess

AU - Jan, Wajanat

AU - Simpson, John

AU - Lucas, Sebastian

AU - Anderson, David

AU - Lin, Jean Pierre

AU - Stratakis, Constantine

AU - Pichert, Gabriella

AU - Lim, Ming

N1 - Funding Information: Acknowledgement This work was supported in part by the National Institutes of Health, Eunie Kennedy Shriver National Institute of Child Health & Human Development intramural project Z01-HD-000642-04 to Dr. C.A. Stratakis. We thank the medical photographers at Guy’s and St. Thomas’ NHS Foundation Trust.

PY - 2009

Y1 - 2009

N2 - We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses, which were resected. Histological examination confirmed multiple atrial myxomas. Further clinical examination of the patient revealed subtle buccal and peri-oral lentigenes. The diagnosis of Carney complex was made clinically. The patient was subsequently diagnosed with testicular seminomas and a cutaneous angiomyxoma. Genetic investigation revealed a pathological mutation in the PRKAR1A gene. We review the reported manifestations and presentations of Carney complex, along with current diagnostic guidelines. We emphasise the importance of recognising the cutaneous manifestations of this rare autosomal dominantly inherited neoplasia syndrome.

AB - We describe a 15-year-old boy who presented with a stroke. Brain MRI imaging showed thalamic and multiple cerebral infarcts. An echocardiogram revealed multiple atrial masses, which were resected. Histological examination confirmed multiple atrial myxomas. Further clinical examination of the patient revealed subtle buccal and peri-oral lentigenes. The diagnosis of Carney complex was made clinically. The patient was subsequently diagnosed with testicular seminomas and a cutaneous angiomyxoma. Genetic investigation revealed a pathological mutation in the PRKAR1A gene. We review the reported manifestations and presentations of Carney complex, along with current diagnostic guidelines. We emphasise the importance of recognising the cutaneous manifestations of this rare autosomal dominantly inherited neoplasia syndrome.

KW - Atrial myxoma

KW - Carney complex

KW - Cutaneous lentiginosis

KW - Stroke

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DO - 10.1007/s00431-009-0935-y

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AN - SCOPUS:70349619647

SN - 0340-6199

VL - 168

SP - 1401

EP - 1404

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 11

ER -

Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex

Abstract

Bibliographical note

Keywords

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