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Table of Contents
CLINICAL IMAGES
Year : 2022  |  Volume : 19  |  Issue : 1  |  Page : 68-69

Facial angiofibroma and shagreen patches of tuberous sclerosis


Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India

Date of Submission02-Jan-2022
Date of Decision30-Jan-2022
Date of Acceptance03-Feb-2022
Date of Web Publication24-Feb-2022

Correspondence Address:
Thirunavukkarasu Arun Babu
Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/am.am_2_22

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How to cite this article:
Babu TA. Facial angiofibroma and shagreen patches of tuberous sclerosis. Apollo Med 2022;19:68-9

How to cite this URL:
Babu TA. Facial angiofibroma and shagreen patches of tuberous sclerosis. Apollo Med [serial online] 2022 [cited 2022 May 21];19:68-9. Available from: https://www.apollomedicine.org/text.asp?2022/19/1/68/338428

An 8-year-old boy presented with a history of seizures, poor academic performance, and hyperpigmented papules over the nose and cheeks in a butterfly distribution [Figure 1]. He was normal at birth and had normal growth and development. On examination, he had areas of hypopigmented, thick and leathery lesions over the back [Figure 2]. Brain imaging revealed multiple calcified subependymal nodules. Abdominal ultrasound, echocardiography, and fundus examination were normal. Based on the clinical presentation and laboratory findings, a diagnosis of tuberous sclerosis was made.
Figure 1: Flesh-colored papules of facial angiofibroma in typical “butterfly” distribution

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Figure 2: Skin-colored, irregularly thickened, leathery shagreen patch

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Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome resulting in hamartoma formation in multiple organs primarily affecting skin and central nervous system and presenting with a wide range of clinical manifestations.[1] The characteristic neurocutaneous skin lesions include facial angiofibromas (adenoma sebaceum) which are skin-colored telangiectatic papules commonly seen over the nasolabial folds and on the cheeks and chin typically distributed in a “butterfly” fashion [Figure 1]. Shagreen patches are flesh-colored soft leathery plaques found in the lumbosacral area [Figure 2]. Other neurocutaneous lesions include ash-leaf hypomelanotic patches, periungual fibromas (Koenen tumors), and café au lait spots. The neurological findings include cortical tubers, subependymal giant cell astrocytomas, subependymal tubers, and cerebral white-matter “migration tracts.” Other commonly associated lesions include retinal hamartomas, cardiac rhabdomyomas, and renal angiomyolipomas.[2] Affected children often present with neurological symptoms such as seizures, intellectual disability, autistic behavior, and attention-deficit hyperactivity disorder.

Neurocutaneous markers are valuable signs to clinically suspect and diagnose phakomatoses. The presence of intellectual disability and seizures in the setting of neurocutaneous markers in any child should raise a strong suspicion of tuberous sclerosis and appropriate testing should be done to diagnose at the earliest. Every effort should be made to rule out other associated lesions in visceral organs.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol 1998;13:624-8.  Back to cited text no. 1
    
2.
Haslam RH. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson Textbook of Pediatrics. 18th ed. Philadelphia: Saunders; 2007. p. 2485-6.  Back to cited text no. 2
    


    Figures

  [Figure 1], [Figure 2]



 

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