|Year : 2021 | Volume
| Issue : 2 | Page : 327-329
Isolated unilateral facial angiofibroma or segmental tuberous sclerosis complex?
Bhagyashree B Supekar, Vaishali H Wankhade, Shashank Agrawal, Rajesh P Singh
Department of Dermatology, Venereology and Leprology, Government Medical College, Nagpur, Maharashtra, India
|Date of Submission||24-Apr-2020|
|Date of Decision||19-Jul-2020|
|Date of Acceptance||12-Sep-2020|
|Date of Web Publication||22-Feb-2021|
Vaishali H Wankhade
Associate Professor, Department of Dermatology, Venereology and Leprology, Government Medical College and Hospital, Nagpur - 440 003, Maharashtra
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Supekar BB, Wankhade VH, Agrawal S, Singh RP. Isolated unilateral facial angiofibroma or segmental tuberous sclerosis complex?. Indian Dermatol Online J 2021;12:327-9
|How to cite this URL:|
Supekar BB, Wankhade VH, Agrawal S, Singh RP. Isolated unilateral facial angiofibroma or segmental tuberous sclerosis complex?. Indian Dermatol Online J [serial online] 2021 [cited 2021 Dec 2];12:327-9. Available from: https://www.idoj.in/text.asp?2021/12/2/327/308905
Tuberous sclerosis complex (TSC) is an autosomal-dominant neuro-cutaneous disorder affecting multiple organs, with hamartomas developing in the brain, skin, kidneys, heart, and eyes. Cutaneous manifestations include hypomelanotic macules, subungual fibromas, facial angiofibromas, fibrous plaques of the forehead, and shagreen patches. More than 90% of patients with TSC have at least one cutaneous manifestation, though none are pathognomonic. They commonly occur in bilateral distribution, but rarely they can be unilateral. We report a case of unilateral isolated facial angiofibromas manifesting as segmental TSC, which can be explained on the basis of loss of heterozygosity and abnormality of the homeobox gene.
A 24-year-old male born of the non-consanguineous marriage presented to us with asymptomatic skin to red-colored raised lesions over nose since 15 years. The lesions first appeared at 9 years of age, which progressively increased in number and size over the last 15 years. There was no history of seizures, headache, visual or auditory disturbances, mental retardation, or early puberty. None of the family members had similar complaints. Cutaneous examination revealed multiple, firm, well-defined, dome-shaped, reddish-brown papules present on the right side of the nose area [Figure 1]a and [Figure 1]b. There were no periungual fibromas, shagreen patches, café-au-lait macules, forehead plaques, or hypopigmented patches. The rest of the cutaneous and systemic examination was unremarkable. Based on history and clinical examination, differential diagnoses of unilateral facial angiofibroma (UFAs), trichoepithelioma (TEs), fibrofolliculoma (FFs), syringoma, and sebaceous hyperplasia were considered [Table 1]. Dermoscopy of facial lesions was performed using 3Gen Dermlite DL4 (CA, USA) 10× polarized mode. Dermoscopy revealed multiple yellowish-white dots distributed over a pinkish-gray background, suggestive of angiofibroma [Figure 2]. Histopathological examination of papule over nose revealed the presence of concentric arrangement of collagen bundles around multiple hair follicles and dilated blood vessels in the upper dermis suggestive of angiofibroma [Figure 3]a and [Figure 3]b. Extracutaneous involvement was excluded by carrying out appropriate investigations such as computed tomography of the brain, chest X-ray, abdominal sonography, echocardiography, and fundus examination. Genetic mutation analysis was not done due to a lack of resources. Based on history, examination, dermoscopy, and histopathology, a diagnosis of unilateral facial angiofibromas (UFAs) with no other features of TSC was reached. The patient was treated with cryosurgery and showed moderate improvement at the end of 2 months of treatment [Figure 4]. The patient was asked to follow up regularly to rule out extracutaneous manifestations of TSC.
|Figure 1: (a and b) Multiple, firm, well-defined dome-shaped, reddish-brown papules present on the right side of nose|
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|Figure 2: Dermoscopy of facial papule showing multiple yellowish-white dots (black arrow) distributed over a pinkish-gray background, suggestive of angiofibromas (3Gen Dermlite DL4 (CA, USA) 10x polarized mode)|
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|Figure 3: (a and b) Histopathological examination of papule over nose revealed the presence of concentric arrangement of collagen bundles around multiple hair follicles and dilated blood vessels in upper dermis suggestive of angiofibroma (H and E 4×: a, 40×: b)|
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|Figure 4: (a and b) Pretreatment (a) and posttreatment (b) of unilateral facial angiofibromas|
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Adenoma sebaceum was first described as a distinct feature of TSC by Balzer and Menetrier in 1885 and Pringle in 1890. However, adenoma sebaceum is a misnomer as these lesions are neither adenomatous nor sebaceous. The histopathologic evaluation has proven these lesions to be angiofibromas. The classical triad of mental retardation, convulsions, and angiofibromas occur in 29% of TSC patients and 6% of them lack all manifestations. Facial angiofibromas occur in 80%–90% of TSC patients, typically presenting after 5 years of age. They commonly occur as bilateral symmetrical small tan to erythematous telangiectatic papules over cheek, chin, and nose. These lesions have also been reported in patients with multiple endocrine neoplasia type 1 and neurofibromatosis (NF). UFAs with or without poliosis, as the only clinical manifestation of TSC is rare. Rarely, these lesions occur unilaterally, as seen in our case. UFA may be analogous to segmental NF and considered as segmental TSC. This may arise from postzygotic mutations or loss of heterozygosity (LOH), where the abnormal phenotypical expression only occurs in affected segments of the body. It has been postulated that an abnormality in the homeobox gene and genetic mosaicism may reflect the segmental distribution of lesions. It has been reported that LOH in which the remaining normal copy of TSC1 and TSC 2 is mutated, occur in angiomyolipoma, cardiac rhabdomyoma, and FAs. Some authors suggested that patients with isolated UFAs need to follow up to look for the development of other extracutaneous manifestations of TSC. The dermoscopic features of FA were described by Bahera in 2017 as multiple yellowish-white dots distributed over a pinkish-gray background and crypts in few lesions, as seen in our case. Histologically, the yellowish-white dots correspond to the follicular hyperkeratosis along with the presence of sebum, the pinkish-gray color to the proliferating blood vessels along with pigmentary incontinence, dermal melanophages while crypts to the pseudofollicular opening. Isolated FAs without any other evidence, as in our case, are very rarely reported in the literature [Table 2].,,,,,,,, Invasive procedures such as cryotherapy, radiofrequency ablation, dermabrasion, excision, chemical peeling, and lasers, have been tried but all these procedures carry a risk of permanent scarring, the requirement of sedation, and incomplete removal. Recently, topical sirolimus has shown significant improvement of adenoma sebaceum. In our case, he was treated with cryotherapy, and there was a moderate improvement of lesions without any sequelae.
|Table 2: Review of literature of isolated UFAs in absence of other cutaneous or extracutaneous features of TSC|
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We report this case because of its rarity to create awareness among dermatologists and to emphasize the need to follow up in such patients for the development of extracutaneous manifestations of TSC.
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.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]
[Table 1], [Table 2]