|Year : 2021 | Volume
| Issue : 2 | Page : 157-159
Co-occurrence of tuberous sclerosis with port wine stain
Rashmi Agarwal1, S Suganya1, BS Chandrashekar1, Sahana M Srinivas2
1 Department of Pediatric Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka, India
2 Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
|Date of Submission||26-Dec-2020|
|Date of Decision||09-Jan-2021|
|Date of Acceptance||27-Jan-2021|
|Date of Web Publication||31-Mar-2021|
Cutis Academy of Cutaneous Sciences, Vijayanagar, Bengaluru, Karnataka
Source of Support: None, Conflict of Interest: None
Tuberous sclerosis complex is a rare autosomal dominant neurocutaneous disorder characterized by the presence of multiple tumors influencing diverse body frameworks including the central nervous system, skin, eyes, heart, lungs, kidney, and bones. It is described by cutaneous changes, neurologic conditions, and the presence of hamartomas in numerous organs. The treatment of these patients requires a multidisciplinary approach. A port-wine stain is characterized as a telangiectatic macule that manifests during childbirth and stays all throughout life. They are associated with many syndromes. This article reports a rare case of co-occurrence of tuberous sclerosis with port-wine stain in a 2-year-old baby.
Keywords: Angiofibroma, hamartoma, port-wine stain, tuberous sclerosis
|How to cite this article:|
Agarwal R, Suganya S, Chandrashekar B S, Srinivas SM. Co-occurrence of tuberous sclerosis with port wine stain. Indian J Paediatr Dermatol 2021;22:157-9
|How to cite this URL:|
Agarwal R, Suganya S, Chandrashekar B S, Srinivas SM. Co-occurrence of tuberous sclerosis with port wine stain. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Apr 18];22:157-9. Available from: https://www.ijpd.in/text.asp?2021/22/2/157/312821
| Introduction|| |
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder originally discovered by von Recklinghausen in 1862. In 1880, Bourneville authored the term “sclerose tubereuse” in view of the pathologic findings of the sclerotic tubers found in the postmortem examination of patients with epilepsy and mental retardation, hence termed as “Bourneville's disease.” TSC is a phakomatosis (nuerocutaneous disorder) characterized by glial tumors in the retina and cerebral hemisphere. It is clinically diagnosed with the presence of triad of angiofibroma, epilepsy, and mental retardation. The occurrence of TSC has been assessed to be 1 out of 10,000 live births and is about one-third as common as neurofibromatosis Type 1. The accessibility of neuroimaging services such as computerized tomography and magnetic resonance imaging (MRI) has made it conceivable to show the presence of cortical hamartomas, white matter abnormalities, and subependymal nodules in the cerebrum. A port-wine stain is characterized as a macular telangiectatic patch which manifests during childbirth and stays throughout life. These are vascular abnormalities which may happen on any part of the body however usually occur on the face along the distribution of trigeminal nerve. At first, they manifest as pale pink patches; in the long run, they develop into a violaceous shade. The co-occurrence of port-wine stain with TSC is relatively a rare manifestation.
| Case Report|| |
A 2-year-old male child born of a nonconsanguineous marriage presented with reddish patch over the face since birth, which was initially pale and gradually increased in size and darkened to attain the present state. Since the past 6 months, the child developed multiple lesions over the cheeks and forehead, which increased in number and size. No history of epilepsy, mental retardation, bleeding, or involution of erythematous patch. Written consent was obtained from the parents of the child.
On examination, an erythematous well-demarcated reddish patch of 5 cm × 7 cm was present over the left side of forehead [Figure 1]. Multiple well-defined, reddish-brown sessile papular growths, suggestive of angiofibromas were noted on bilateral cheeks [Figure 2]. These lesions were also seen interspersed on the erythematous patch and along the periphery. On dermoscopy, the forehead patch showed the presence of diffuse erythema interspersed with red dots and globules suggestive of port-wine stain. Multiple areas of grouped white globules on a brownish background along with linear vesels were seen at the periphery of the patch, suggestive of angiofibromas [Figure 3]. Multiple hypopigmented-to-depigmented patches were present over the limb, suggestive of ash leaf macules. A small solitary elevated pink to yellow-brown plaques with an orange peel-like texture (collagenoma) was present over the abdomen. Vital signs were found to be within normal limits.
|Figure 1: Large erythematous patch on the left forehead with pinkish-brown papules at the periphery|
Click here to view
|Figure 3: Videodermoscopic (×20) image from the erythematous patch on forehead: Red dots and globules on an erythematous background suggestive of port wine stain (inner square), grouped white globules on a brownish background suggestive of angiofibroms (inner circle)|
Click here to view
The patient was subjected to radiological investigations. MRI brain showed features, suggestive of TSC-small nodular calcific foci in the cerebral hemispheres along with multiple small subependymal nodular calcific foci along the margins of the bilateral lateral ventricles.
The parents were counseled about the disease course and prognosis and referred to a pediatrician for further evaluation. Vascular laser therapy (589 nm) was planned for the treatment of port-wine stain.
| Discussion|| |
TSC is an autosomal dominant disorder characterized by the presence of multiple hamartomas in brain, skin, retina, and other visceras. The abnormal genes, TSC1 (hamartin) and TSC2 (tuberin), are expressed on two sites of chromosome, i.e., 9q34 and 16p13, respectively. The gene for polycystic kidney disease PKD1 is in close proximity of TSC2. When Rheb is in the guanosine triphosphate-bound active state, it stimulates the mammalian target of rapamycin (mTOR). The mutations in these genes result in the activation of mTOR, leading to multisystem hamartomatosis in various organs of the body.
Port-wine stain is a capillary malformation, with an incidence of 0.3% in newborns. It usually presents as well-demarcated red or purplish patch at birth over the head and neck. Unlike hemangiomas, port wine stain (PWS) persists throughout life. A wide scope of treatment choices has been proposed for port-wine stain which incorporates pulsed dye laser which has become the treatment of choice. Laser treatment has been the best at wiping out port-wine stains. It is the main technique that can obliterate the small vessels in the skin without altogether harming the skin. It is usually unilateral not associated with other abnormalities but can be a cutaneous marker associated with many syndromes (Sturge– Weber syndrome More Details, Parkes–Weber syndrome, Klippel–Trenaunay syndrome, Cobb syndrome, Wyburn–Mason syndrome, Proteus syndrome, phakomatosis pigmentovascularis, Beckwith–Wiedemann syndrome, Roberts syndrome, TAR syndrome, and von Hippel–Lindau disease). The incidence of port-wine stain in Sturge–Weber syndrome is 3%. The coexistence of TSC and PWs has rarely been reported in the literature. Ben-Amitai et al. conducted a study in 24 tuberous sclerosis patients and found clinically evident port-wine stain in 3 (12.5%) patients. Patnekar et al. reported the coexistence of port-wine stain with TSC in a 10-month-old baby with generalized tonic–clonic convulsions.
Dermoscopic features of angiofibromas and PWS have been reported earlier. Angiofibromas consist of yellowish-white dots on a pinkish-gray background (similar to the present case) corresponding to the follicular hyperkeratosis along with the presence of sebum and to the proliferating blood vessels along with pigmentary incontinence and dermal melanophages, respectively. PWS dermoscopy demonstrates red dots, linear vessels, and globules.
The co-occurrence of port-wine stain in cases of tuberous sclerosis may be linked to alterations in autonomic function and vascular endothelial growth factor (VEGF) activity, which is seen in both TSC as well as PWS. Loss of either the Tsc1 or the Tsc2 gene products induces the production of VEGF. This increase in VEGF activity could contribute to the pathogenesis of PWS by inducing vessel proliferation, vasodilatation, or both.
We are reporting this case as the incidence of co-occurrence of port-wine stain in TSC might be higher than expected due to a lack of reporting and this might help in understanding different dermatological features seen in patients with TSC, apart from the usual specific ones, i.e., angifibromas, ash leaf macules, Koenen tumor, etc.
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
Conflicts of interest
There are no conflicts of interest.
| References|| |
Dumitrescu D, Georgescu EF, Niculescu M, Dumitrescu CI, Mogoantă SS, Georgescu I. Tuberous sclerosis complex: Report of two intrafamilial cases, both in mother and daughter. Rom J Morphol Embryol 2009;50:119-24.
Midde ML, Saheb DM. Tuberous sclerosis complex – A case report. Southeast Asian J Case Rep Rew 2013;2:343-8.
Bundey S, Evans K. Tuberous sclerosis: A genetic entity. J Neurol Neurosurg Psychiatry 1970;32:591.
Klapman MH, Yao JF. Thickening and nodules in port-wine stains. J Am Acad Dermatol 2001;44:300-2.
Cheng TS. Tuberous sclerosis complex: An update. Hong Kong J Dermatol Venereol 2012;20:61-7.
Enjolras O, Chapot R, Merland JJ. Vascular anomalies and the growth of limbs: A review. J Pediatr Orthop B 2004;13:349-57.
Ben-Amitai D, Halachmi S, Lapidoth M. Are port wines stains a feature of tuberous sclerosis? J Eur Acad Dermatol Venereol 2011;25:804-7.
Patnekar PN, Kulkarni HA, Khopkar SR, Kulkarni VS, Nerurkar RS. Nevus flammeus in tuberous sclerosis. Indian Pediatr 1995;32:1038-9.
Behera B, Kumari R, Gochhait D, Sathya AB, Thappa DM. Dermoscopy of adenoma sebaceum. J Am Acad Dermatol 2017;76:S86-S88.
Vázquez-López F, Coto-Segura P, Fueyo-Casado A, Pérez-Oliva N. Dermoscopy of port-wine stains. Arch Dermatol 2007;143:962.
El-Hashemite N, Walker V, Zhang H, Kwiatkowski DJ. Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin. Cancer Res 2003;63:5173-7.
Vural E, Ramakrishnan J, Cetin N, Buckmiller L, Suen JY, Fan CY. The expression of vascular endothelial growth factor and its receptors in port-wine stains. Otolaryngol Head Neck Surg 2008;139:560-4.
[Figure 1], [Figure 2], [Figure 3]