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Year : 1996  |  Volume : 62  |  Issue : 3  |  Page : 205

Diagnostic value of hypomelanotic macules of tuberous sclerosis

Correspondence Address:
Gursh Bedi

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Source of Support: None, Conflict of Interest: None

PMID: 20948054

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How to cite this article:
Bedi G. Diagnostic value of hypomelanotic macules of tuberous sclerosis. Indian J Dermatol Venereol Leprol 1996;62:205

How to cite this URL:
Bedi G. Diagnostic value of hypomelanotic macules of tuberous sclerosis. Indian J Dermatol Venereol Leprol [serial online] 1996 [cited 2019 Dec 9];62:205. Available from: http://www.ijdvl.com/text.asp?1996/62/3/205/4391

  To the Editor, Top

Hypomelanotic macules of tuberous sclerosis are the earliest manifestation of disease, usually present in 80% of affected infants at birth or within two years of life.[1][2][3] Though at times barely discernible these can be made prominent by Wood's light.[4] When frank depigmentation is present these are usually mistaken for vitiligo or naevus depigmentosus by unwary.

We recently observed two such patients misdiagnosed and treated as vitiligo and naevus depigmentosus respectively. One patient was 60-year-old male having two ash-leaf macules over legs and a shagreen patch over back without any history of epilepsy or mental retardation. Patient had these lesions undiagnosed since childhood and was recently treated with topical steroids with a diagnosis of vitiligo. The other patient was a 13-year-old girl with a single ash-leaf macule over face diagnosed as naevus depigmentosus with 6 years history of epilepsy treated with carbamazepine.

We realise that a small naevus depigmentosus with serrated margins can certainly be mistaken for ash-leaf macule if history of epilepsy and mental retardation, and lesions of angiofibromas and shagreen patch are not sought. This is especially true where ash-leaf macule is the sole manifestation of disease as a monosymptomatic form. In less defined lesions vitiligo is definitely a strong contender but non-progressive nature of ash-leaf macules and presence of melanocytes on histology can differentiate it from vitiligo. Besides being earliest, hypomelanotic macules do not require histologic confirmation if lesion is clinically obvious.[5] Three types of hypomelanotic macules are described and in order of frequency these are: polygonal or thumb print; ash-leaf or lance ovate; and confetti like.[1] Angiofibromas, the specific markers, are present in 70% of affected children but their appearance is delayed until 2-4 years of age.[1] Kwiatkowski et al have suggested that tuberous sclerosis is best diagnosed by experienced clinicians at specialized centres.[5] Importance of early diagnosis is especially a must because epilepsy in these patients if uncontrollable by drugs may be amenable to surgery at times.[4]

  References Top

1.Fitzpatrick TB. Genodermatoses. In: Sober AJ, Fitzpatrick TB, editors. Year book of dermatology. London: Mosby, 1995:2118.  Back to cited text no. 1  [PUBMED]  
2.Gold AP, Freeman JM. Depigmented nevi: the earliest sign of tuberous sclerosis. Pediatrics 1965;35:1003-5.  Back to cited text no. 2  [PUBMED]  
3.Fitzpatrick TB, Szabo G, Hori Y, et al. White leaf shaped macules. Earliest visible sign of tuberous sclerosis. Arch Dermatol 1968;98:1-6.  Back to cited text no. 3  [PUBMED]  
4.Harper J. Genetics and genodermatosis. In: Champion RH, Burton JL, Ebling FJG, editors. Textbook of dermatology. Oxford: Blackwell, 1992:327-30.  Back to cited text no. 4    
5.Kwiatkowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol 1994;130:348-54.  Back to cited text no. 5  [PUBMED]  


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