Limits...
Do you know this syndrome?

Gontijo GM - An Bras Dermatol (2013 Mar-Apr)

Bottom Line: The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung.The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described.The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria.

View Article: PubMed Central - PubMed

Affiliation: gabrielagontijo@hotmail.com

ABSTRACT
The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria. Presence of two major criteria, such as facial angiofibromas, forehead fibrous plaques, three or more hypomelanotic macules establish the definitive diagnosis. The diagnosis should be made as early as possible in order to assess and treat the associated complications.

Show MeSH

Related in: MedlinePlus

Multiple pinkish-brown shiny papules, about 2 mm in diameter in the malarregion
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC3750905&req=5

f01: Multiple pinkish-brown shiny papules, about 2 mm in diameter in the malarregion

Mentions: On examination, she had multiple pinkish-brown, shiny papules, about 2 mm in diameter inthe malar region and chin, brownish frontal and pre-auricular plaques and multiplehypochromic stains on the trunk, including ash leaf spots (Figures 1,2 and 3). The frontal and pre-auricular lesions areprobably fibrous plaques, classified as angiofibromas; the patient did not allow abiopsy, so other possible diagnosis such as melanocytic naevi, verrucous naevi and evenShagreen patch with unusual localization should be considered.


Do you know this syndrome?

Gontijo GM - An Bras Dermatol (2013 Mar-Apr)

Multiple pinkish-brown shiny papules, about 2 mm in diameter in the malarregion
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3750905&req=5

f01: Multiple pinkish-brown shiny papules, about 2 mm in diameter in the malarregion
Mentions: On examination, she had multiple pinkish-brown, shiny papules, about 2 mm in diameter inthe malar region and chin, brownish frontal and pre-auricular plaques and multiplehypochromic stains on the trunk, including ash leaf spots (Figures 1,2 and 3). The frontal and pre-auricular lesions areprobably fibrous plaques, classified as angiofibromas; the patient did not allow abiopsy, so other possible diagnosis such as melanocytic naevi, verrucous naevi and evenShagreen patch with unusual localization should be considered.

Bottom Line: The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung.The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described.The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria.

View Article: PubMed Central - PubMed

Affiliation: gabrielagontijo@hotmail.com

ABSTRACT
The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria. Presence of two major criteria, such as facial angiofibromas, forehead fibrous plaques, three or more hypomelanotic macules establish the definitive diagnosis. The diagnosis should be made as early as possible in order to assess and treat the associated complications.

Show MeSH
Related in: MedlinePlus