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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 5  |  Issue : 2  |  Page : 118-122

Tuberous sclerosis complex: Angiofibroma vipula/proliferanza?


Department of Internal Medicine, JSS Medical College, JSS University, Mysore, Karnataka, India

Date of Web Publication14-Apr-2016

Correspondence Address:
P K Kiran
Department of Internal Medicine, JSS Medical College, JSS University, Mysore, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2278-344X.180421

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  Abstract 

Tuberous sclerosis complex (TSC) represents a genetic disorder of hamartoma formation in many organs; particularly the skin, brain, eye, kidney, and heart. We are reporting a case of TSC in a patient and his daughter. The interesting feature is the appearance of the facial angiofibromas in this patient. In this patient, there was a sudden spurt in growth of these lesions in the last 7 months at the age of 50 years giving an appearance of nodular growth, misleading the diagnosis. The lesion was biopsied to know any secondary changes had occurred. There is no mention in the literature regarding such a rapid growth or any secondary changes occurring in angiofibromas. Neither the biopsy revealed any secondary changes. Hence, this interesting phenomenon has been reported. Is it apt to call it as “ANGIOFIBROMA PROLIFERANZA” or “ANGIOFIBROMA VIPULA”? (The word VIPULA in local South Indian Kannada language is prolific growth).

Keywords: Angiofibromas, secondary changes, shagreen patch, tuberous sclerosis


How to cite this article:
Sudharshana Murthy K A, Kiran P K, Babu M S, Thippeswamy T, Ashoka H G, Chakravarthy T. Tuberous sclerosis complex: Angiofibroma vipula/proliferanza?. Int J Health Allied Sci 2016;5:118-22

How to cite this URL:
Sudharshana Murthy K A, Kiran P K, Babu M S, Thippeswamy T, Ashoka H G, Chakravarthy T. Tuberous sclerosis complex: Angiofibroma vipula/proliferanza?. Int J Health Allied Sci [serial online] 2016 [cited 2019 Sep 21];5:118-22. Available from: http://www.ijhas.in/text.asp?2016/5/2/118/180421


  Introduction Top


Tuberous sclerosis complex (TSC) represents a genetic disorder of hamartoma formation in many organs, particularly the skin, brain, eye, kidney, and heart. Characteristic skin lesions are numerous and include angiofibromas, the shagreen patch, periungual fibromas, and ash leaf white macules, seen in association with epilepsy and mental retardation.[1] The inheritance of TSC is as an autosomal dominant trait with variable penetrance (Weiner et al., 1998).[2] Facial angiofibromas (adenoma sebaceum) consist of vascular and connective tissue elements. The shagreen patch is an irregularly shaped, slightly raised, or textured skin lesion found on the back or flank area. Ungual fibromas are nodular or fleshy lesions that arise adjacent to or underneath the nails.[3] Computed tomography (CT) best demonstrates the calcified subependymal nodules that characterize TSC.[3]


  Case Report Top


A 50-year-old gentleman presented with a history of disfigurement of face due to nodular growth. Initially, they were nonprogressive multiple hyperpigmented tiny nodules predominantly in the central part of the face since childhood. Since 7 months, the nodules coalesced and progressed to form nodular growth which obscured his vision and also there was difficulty in breathing [Figure 1].
Figure 1: Facial appearance of patient showing angiofibromas

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Figure 1a: F – Father, M – Mother, B – Brother, P – Patient (Index case), W – Wife, D – Daughter

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He was born of a second degree consanguineous marriage and has two brothers all alive and healthy. He was married at the age of 25 to his niece and has one daughter of 8 years age. The child was a full-term normal delivery. She started getting generalized tonic-clonic seizures at the age of 1 year controlled with medications. She also developed multiple macules over the face. Her schooling at present at Grade II is satisfactory. Patient is an illiterate but capable of managing day to day affairs [Figure 2].
Figure 2: Facial appearance of patients daughter showing angiofibromas and also malaligned teeth

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On general physical examination, the patient had multiple skin colored to hyperpigmented papules and nodules varying in size from pinhead to >1 cm. The lesions were soft to firm in consistency, nontender, distributed over the nose, nasolabial fold, cheeks, and forehead, encroached onto the nostrils causing difficulty in breathing and on to the medial canthus of eye partially obscuring his vision [Figure 1]. Further examination revealed a thick dimpled orange peel-like skin with a leathery feeling over the lower part of the back on the left side [Figure 3]. Furthermore, there were nail changes [Figure 4]. On general physical examination, daughter had discrete multiple macules and red-brown papules located over the nasolabial fold, chin, and cheeks [Figure 2]. She also had thick dimpled orange peel-like skin with a leathery feeling over the right infrascapular area [Figure 5]. Her teeth were malaligned. Systemic examination of patient and patient's daughter was normal. Routine blood investigations were normal. CT head showed multiple calcifications in subependymal region of both the ventricles and specks of calcification in adjacent temporal horn of both ventricles. Hypodense lesions were seen in right frontal and parietal lobe, suggesting tubers [Figure 6]a. The echocardiogram of the patient showed few nodular lesions in the atrium, and magnetic resonance imaging (MRI) of thorax showed mildly thickened left ventricular and interventricular septum [Figure 6]b. Patient's ultrasonography abdomen was normal. The daughter's ultrasonography showed multiple hypoechoic lesions in kidneys. MRI abdomen showed diffuse altered signal intensity in both kidneys with multiple cysts [Figure 7]. Patient's daughter's CT head and her echocardiogram were normal.
Figure 3: Shagreen patch over the left lumbar region of patient

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Figure 4: Nail changes suggestive of periungual fibromas in patient

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Figure 5: Shagreen patch over right infrascapular area of patients daughter

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Figure 6: (a and b) Computed tomography scan head and magnetic resonance imaging thorax of the patient showing tubers and thickened left ventricular and interventricular septum, respectively

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Figure 7: Magnetic resonance imaging abdomen of patients daughter showing multiple cysts in kidneys

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A facial lesion of the patient was biopsied. The histopathology showed well-circumscribed, variable pseudocapsule, cellular tumor with fascicles in haphazard manner, band of spindle cells with eosinophilic cytoplasm, prominent vessels with hyaline fibrosis in walls, no necrosis, or no atypical mitotic figures [Figure 8]a. Lesion suspected of shagreen patch was also biopsied which showed increased collagen forming bundles in the dermis [Figure 8]b.
Figure 8: (a and b) Histopathological picture of angiofibroma and shagreen patch of patient

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  Discussion Top


Tuberous sclerosis is also an autosomal dominant disease that is associated with gene mutations of TSC 1 or TSC 2 encoding hamartin and tuberin, respectively. However, two-thirds of cases are caused by sporadic mutations.[4] The skin lesions are detected in more than 90% of patients with TSC.[5]

Angiofibromas are firm discrete red-brown telangiectatic papules, 1–10 mm in diameter, on central face, extend from nasolabial furrows to the cheeks and chin.[1],[6] The shagreen patch is observed in approximately 50% of the patients.[7] It is a firm or rubbery irregular plaque ranging in size from 1 to 10 cm. The patch may have the surface appearance of an orange peel usually in the lumbosacral region.[1] Lesions over the face of the patient and his daughter were consistent with angiofibromas. The lesion over the lower part of the back on left side in our patient and lesion over the right infrascapular area in patient's daughter were consistent with shagreen patch. Patient's daughter also had malaligned teeth. Patient's nail changes were suggestive of periungual fibromas which were nodular or fleshy lesions that arise adjacent to or underneath the nails.

The characteristic CT findings of tuberous sclerosis include periventricular (subependymal) nodules, parenchymal hamartomas (cortical tubers), and ventriculomegaly.[8] In our patient CT head showed subependymal calcification and tubers which suggest tuberous sclerosis. Approximately, two-third of patients with TSC have cardiac rhabdomyoma which are hamartomas.[9] Our patient's cardiac MRI showed only mild thickening of left ventricle otherwise normal. Ultrasonography abdomen of daughter showed multiple renal cysts consistent with tuberous sclerosis.

The typical features of an angiofibroma are sclerotic, hyalinized stroma, with scattered spindle and stellate cells and telangiectatic blood vessels.[10] The shagreen patches have the histologic features of connective tissue nevi, with either a dense, sclerotic mass of broad collagen bundles in the dermis.[11] Histological features of facial lesion and lesion over the back of the patient are suggestive of angiofibroma and shagreen patch, respectively.

For diagnosis of tuberous sclerosis, we have major and minor criteria (Roach et al., 1998).[12]

Major features

  • Facial angiofibromas or forehead plaque
  • Nontraumatic ungual or periungual fibroma
  • Hypomelanotic macules (more than three)
  • Shagreen patch (connective tissue nevus)
  • Multiple retinal nodular hamartomas
  • Cortical tuber
  • Subependymal nodule
  • Subependymal giant-cell astrocytoma
  • Cardiac rhabdomyoma, single or multiple
  • Lymphangiomyomatosis
  • Renal angiomyolipoma.


Minor features

  • Multiple randomly distributed pits in dental enamel
  • Hamartomatous rectal polyps
  • Bone cysts
  • Cerebral white matter radial migration lines,
  • Gingival fibromas
  • Nonrenal hamartoma
  • Retinal achromic patch
  • Confetti skin lesions
  • Multiple renal cysts.


Definite tuberous sclerosis complex

Either two major features or one major feature plus two minor features.

Probable tuberous sclerosis complex

One major plus one minor feature.

Our patient had facial angiofibromas, nontraumatic ungual or periungual fibroma, shagreen patch, and cortical tuber. Patient's daughter also had similar lesions over the face with features suggestive of angiofibroma, shagreen patch, convulsion, and renal cysts.


  Conclusion Top


Although this patient and his daughter had all classical signs and features meeting the revised diagnostic criteria of TSC, the interesting feature is the appearance of the facial angiofibromas in this patient. There was a sudden spurt in growth of these lesions in the last 7 months at the age of 50 years giving an appearance of nodular growth, misleading the diagnosis. With the corroborative evidence of other features suggestive of TSC, the diagnosis was established. The biopsy did not reveal any secondary changes. Hence, this interesting phenomenon has been reported. Is it apt to call it as “ANGIOFIBROMA PROLIFERANZA” or “ANGIOFIBROMA VIPULA”? (The word VIPULA in local South Indian Kannada language is prolific growth).

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names 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.
Irvine AD, Mellerio JE. Genetics and Genodermatoses. Rook's Textbook of Dermatology. 8th ed. UK: Wiley Blackwell; 2010.  Back to cited text no. 1
    
2.
Weiner DM, Ewalt DE, Roach ES, Hensle TW. The tuberous sclerosis complex: A comprehensive review. J Am Coll Surg 1998;187:548-61.  Back to cited text no. 2
    
3.
Monica PI, Roach ES. Neurocutaneous Syndromes. Bradley's Neurology in Clinical Practice. 5th ed. Philedelphia: Elsevier; 2008.  Back to cited text no. 3
    
4.
Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol 1994;130:348-54.  Back to cited text no. 4
    
5.
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006;355:1345-56.  Back to cited text no. 5
    
6.
Robert L, Joel C. The Neurofibromatosis. Fitzpatrick's Dermatology in General Medicine. 7th ed. New York: McGraw Hill Inc.; 2008.  Back to cited text no. 6
    
7.
Józwiak S, Schwartz RA, Janniger CK, Michalowicz R, Chmielik J. Skin lesions in children with tuberous sclerosis complex: Their prevalence, natural course, and diagnostic significance. Int J Dermatol 1998;37:911-7.  Back to cited text no. 7
    
8.
Evans JC, Curtis J. The radiological appearances of tuberous sclerosis. Br J Radiol 2000;73:91-8.  Back to cited text no. 8
    
9.
Monica PI, Roach ES. Neurocutaneous Syndromes. Bradley's Neurology in Clinical Practice. 5th ed. Philedelphia: Elsevier; 2008.  Back to cited text no. 9
    
10.
Trevor WB, Minh HL, Peter JH. Tumours of fibrous tissue involving the skin. Lever's Histopathology of Skin. 10th ed. Philedelphia: Lippincott William and Wilkins; 2009.  Back to cited text no. 10
    
11.
nickel WR, Reed WB. Tuberous sclerosis. Special reference to the microscopic alterations in the cutaneous hamartomas. Arch Dermatol 1962;85:209-26.  Back to cited text no. 11
    
12.
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. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]



 

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