Journal of Clinical Images and Medical Case Reports
ISSN 2766-7820
Clinical Image - Open Access, Volume 4
Cutaneous manifestations of tuberous sclerosis complex: An uncommon entity
Prabhat Rijal*; Mayank Agarwal; Rohit Raina; Shivangi Saini; Divas Rijal; Monika Pathania
Department of Internal Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
*Corresponding Author : Prabhat Rijal
Department of Internal Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Email: [email protected]
Received : Dec 09, 2022
Accepted : Jan 02, 2022
Published : Jan 09, 2023
Archived : www.jcimcr.org
Copyright : © Rijal P (2023).
Citation: Rijal P, Agarwal M, Raina R, Saini S, Rijal D, et al. Cutaneous manifestations of tuberous sclerosis complex: An uncommon entity. J Clin Images Med Case Rep. 2023; 4(1): 2233.
Case summary
A middle-aged female from Northern India, presented to the Outpatient department with cutaneous lesions typical of Tuberous Sclerosis Complex (TSC) without intellectual disability. She had multiple skin lesions which are enlisted below:
a. Hypomelanotic macule on medial aspect of left forearm (Figure 1)
b. Periungual fibromas (Figure 2)
c. Typical lesions of adenoma sebaceum distributed along and around the centre of facecausing disfigurement (Figure 3)
d. Shagreen patch over the lower back (Figure 4).
Table 1: Tuberous sclerosis complex diagnostic criteria.
| Major features | Minor features |
|---|---|
| Hypomelanotic macules (≥3, at least 5 mm diameter) | Confetti’ skin lesions |
| Angiofibroma (≥3) or fibrous cephalic plaque | Dental enamel pits (>3) |
| Ungual fibromas (≥2) | Intraoral fibromas (≥2) |
| Shagreen patch | Retinal achromic patch |
| Multiple retinal hamartomas | Multiple renal cysts |
| Cortical dysplasias | Non-renal hamartomas |
| Subependymal nodules | |
| Subependymal giant cell astrocytoma | |
| Cardiac rhabdomyoma | |
| Lymphangioleiomyomatosis | |
| Angiomyolipomas | |
| Definite diagnosis= 2 major features or 1 major feature with ≥2 minor features. Possible diagnosis= 1 major feature or ≥2 minor features. |
|
Discussion
Tuberous Sclerosis Complex (TSC) is a neurocutaneous syndrome with a prevalence of around nine in 100,000 cases [1]. It is characterized clinically by a triad of seizures, intellectual disdisability, and adenoma sebaceum. However, approximately 50% patients have normal intellect, and 15% with no seizures [2]. Cutaneous findings are the most common as well as readily appreciable manifestations of Tuberous Scleorsis Complex (TSC). These cutaneous manifestations compose most of the major and minor criteria (Table 1) for the diagnosis of TSC [3]. Of these, hypomelanotic macules are usually the earliest and most frequently observed cutaneous findings [4]. Other skin lesions do occur at variable frequencies and manifest at different ages.
Timely identification of such lesions not only helps identify the disease per se, but also enables us to prevent the disfigurement of the body parts especially face by timely application of various treatment modalities. Therefore, detailed dermatological examination is recommended upon the time of diagnosis of TSC, followed by at least annual skin examinations. Infact, patients are advised to use sun protective measures to minimise the appearance of some skin lesions. With these clinical image, we aim to make the clinicians in our part of world more familiar to the disease and its cutaneous manifestations.
References
- O’Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet. 1998; 351: 1490.
- Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol. 1998; 13: 624-628.
- Northrup H, Krueger DA, Roberds S, Smith K, Sampson J, et al. Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric neurology. 2013; 4: 243-254.
- Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. Tuberous sclerosis complex: Advances in diagnosis, genetics, and management. Journal of the American Academy of Dermatology. 2007; 57: 189-202.