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LETTER TO THE EDITOR |
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Year : 2013 | Volume
: 6
| Issue : 1 | Page : 110-111 |
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Tuberous sclerosis with shagreen patch over the face
Milind A Patvekar, Avinash B Jadhav
Department of Dermatology, Padmashree Dr. D. Y. Patil Medical College, Hospital & Research Centre, Dr. D. Y. Patil Vidyapeeth, Pimpri, Pune, India
Date of Web Publication | 14-Mar-2013 |
Correspondence Address: Milind A Patvekar Queens Tower, Flat B-204, Udyog Nagar, Opp. Lokmanya Hospital, Chinchwad, Pune, Maharashtra India
Source of Support: None, Conflict of Interest: None | Check |
DOI: 10.4103/0975-2870.108668
How to cite this article: Patvekar MA, Jadhav AB. Tuberous sclerosis with shagreen patch over the face. Med J DY Patil Univ 2013;6:110-1 |
Sir,
We report a rare case of Shagreen patch over the face in a patient of tuberous sclerosis (TS). Shagreen patch over the face is a rare site of presentation.
A 40-year-old female presented with clinical features, typical of TS, like adenoma sebaceum over face (mainly nasolabial folds), ash-leaf macule and a shagreen patch over left side of face [Figure 1]. The patient reported single episode of seizures 13 years back. Her 15 year old daughter had similar complaints and presented with multiple adenoma sebaceum over face. Both the mother and daughter appeared intellectually normal. The patient reported no history of consanguineous marriage. Family history otherwise was non-contributory. Dermatological examination revealed a 5 × 4 cm well-defined, asymptomatic rubbery plaque with irregular margins, located just below the angle of mouth [Figure 2], clinically consistent with a shagreen patch. Investigations including echocardiogram, ultrsonography of abdomen, and MRI of the brain were normal. Histopathological examination of an incisional biopsy taken from the plaque revealed dense collagen bundles in the deep dermis in an interwoven pattern, crisscrossing each other with mild lymphocytic infiltrate at the dermo-epidermal junction. Epidermis appeared unremarkable [Figure 3].
TS is an autosomal dominant neurocutaneous disorder, related to the mutation of TSC1 and TSC2 located on 9q34 and 16p13, respectively. These genes normally express tumor suppressing function. But once mutated, they stop carrying out their function and tumors of TS occur. [1],[2]
Shagreen patch was first described by Hallopeau and Leredde in 1895. [3] Since then it has been reported to be present in 20-50% of cases of tuberous sclerosis. [4] The frequency of these lesions increases with age, with the first appearance occurring at the onset of puberty. It is a connective tissue nevi, that presents as a firm to rubbery irregular plaque, ranging in size from 1 to 10 cm, The surface may appear bumpy with coalescing papules and nodules or the patch may resemble the surface of an orange peel. It is commonly located over the back, buttocks, thighs and nape of neck. [1],[2] Histopathologically, Rogerin 1988 described two pictures of shagreen patches: the first and the more commoner variant shows a normal band of superficial dermis, but haphazardly arranged collagen in the deeper dermis, whereas the other rare variant shows a hamartomous proliferation of collagen bundles throughout the dermis. The occurrence of a shagreen patch over face is a rare finding, and to the best our knowledge only one case of its occurrence over face has been reported by Ravi et al. in a pediatric patient. [5]
References | | |
1. | Tsao H. Neurofibromatosis and Tuberous sclerosis. In: Bolognia JL, editor. Dermatology.2 nd ed. U.S.A: Mosby Publisher; 2008. p. 825-9. |
2. | Darling TN. Tuberous sclerosis complex. In: Wolff K, Katz SI, editors. Fitzpatrick's dermatology in general medicine. 7 th ed.U.S.A.: McGraw Hill Publisher; 2008. p. 1325-8. [PUBMED] |
3. | Trauner MA, Ruben BS, Lynch PJ. Segmental tuberous sclerosis presenting as unilateral facial angiofibromas. J Am Acad Dermatol 2003;49:S164-6. [PUBMED] |
4. | Krishnan SG, Yesudian DP, Jayaraman M, Janaki VR, Raj BJ. Tuberous sclerosis. Indian J Dermatol Venereol Leprol 1996;62:239-41. [PUBMED] |
5. | Ravi A, Veerabadhra D, Richa G, Ngangbam S. A rare occurrence of Shagreen patch on the face of a pediatric patient with tuberous sclerosis. Iranian J Child Neurol 2012;6:39-42. http://journals.sbmu.ac.ir/index.php/ijcn/article/view/2931[Last accessed 2012 Nov 03]. |
[Figure 1], [Figure 2], [Figure 3]
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