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April 1985, Vol 139, No. 4 >
Article | April 1985

The Late Appearance of Hypopigmented Maculae in Tuberous Sclerosis FREE

Edgar Y. Oppenheimer, MD; N. Paul Rosman, MD; Elizabeth C. Dooling, MD
[+] Author Affiliations

Reprint requests to Department of Pediatric Neurology, North Shore Children's Hospital, 57 Highland Ave, Salem, MA 01970 (Dr Oppenheimer).


Am J Dis Child. 1985;139(4):408-409. doi:10.1001/archpedi.1985.02140060090039.
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• Tuberous sclerosis (TS) is a dominantly inherited disorder characterized by seizures, developmental delay, and specific skin lesions. Hypopigmented maculae that occur in 80% of patients with TS have become important for the clinical diagnosis of TS in young children. These lesions are claimed to be present from birth, in contrast with other dermatologic manifestations of TS that usually appear much later. We studied seven children in whom hypopigmented maculae appeared months to years after repeated negative skin examinations. Our findings emphasized that the absence of hypopigmented maculae in young children does not preclude their later appearance nor rule out the diagnosis of TS. The need for repeated skin examinations in infants and children with suspected TS or with seizures and/or mental retardation of unknown cause is apparent.

(AJDC 1985;139:408-409)

REFERENCES

1 +
Gomez MR:  Clinical experience at Mayo Clinic , in Gomez MR (ed): Tuberous Sclerosis . New York, Raven Press, 1979;, pp 13-15.
2 +
Rogers RS:  Dermatological manifestations: Hypomelanotic macules , in Gomez MR (ed): Tuberous Sclerosis . New York, Raven Press, 1979;, pp 95-101.
3 +
Chao DH-C:  Congenital neurocutaneous syndromes in childhood . J Pediatr 1959;;55:447-459.
4 +
Gold AP, Freeman JM:  Depigmented nevi: The earliest sign of tuberous sclerosis . Pediatrics 1965;;35:1003-1005.
5 +
Fitzpatrick TB, Szabo G, Hori Y, et al:  White leaf-shaped macules: Earliest visible sign of tuberous sclerosis . Arch Dermatol 1968;;98:1-6.
6 +
Harris R, Moynahan EJ:  Tuberose sclerosis with vitiligo . Br J Dermatol 1966;;78:419-420.
7 +
Hunt A:  Tuberous sclerosis: A survey of 97 cases. II: Physical findings . Dev Med Child Neurol 1983;;25:350-352.

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References

1 +
Gomez MR:  Clinical experience at Mayo Clinic , in Gomez MR (ed): Tuberous Sclerosis . New York, Raven Press, 1979;, pp 13-15.
2 +
Rogers RS:  Dermatological manifestations: Hypomelanotic macules , in Gomez MR (ed): Tuberous Sclerosis . New York, Raven Press, 1979;, pp 95-101.
3 +
Chao DH-C:  Congenital neurocutaneous syndromes in childhood . J Pediatr 1959;;55:447-459.
4 +
Gold AP, Freeman JM:  Depigmented nevi: The earliest sign of tuberous sclerosis . Pediatrics 1965;;35:1003-1005.
5 +
Fitzpatrick TB, Szabo G, Hori Y, et al:  White leaf-shaped macules: Earliest visible sign of tuberous sclerosis . Arch Dermatol 1968;;98:1-6.
6 +
Harris R, Moynahan EJ:  Tuberose sclerosis with vitiligo . Br J Dermatol 1966;;78:419-420.
7 +
Hunt A:  Tuberous sclerosis: A survey of 97 cases. II: Physical findings . Dev Med Child Neurol 1983;;25:350-352.

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