Elsevier

The Journal of Pediatrics

Volume 129, Issue 3, September 1996, Pages 355-361
The Journal of Pediatrics

Prevalence of hypopigmented macules in a healthy population,☆☆,,★★

https://doi.org/10.1016/S0022-3476(96)70066-5Get rights and content

Abstract

OBJECTIVE: Although hypopigmented macules are an important manifestation of tuberous sclerosis (TS), the probability of TS in healthy individuals who have hypopigmented macules is unknown. The purpose of this study was to establish the prevalence of hypopigmented macules among a cross section of the general white population. STUDY DESIGN: The skin of 423 white individuals younger than 45 years of age was screened for hypopigmented macules with ambient incandescent and fluorescent light and a Wood lamp. Indirect ophthalmoscopy was performed in patients with unexplained hypopigmentation to screen for retinal manifestations of TS. RESULTS: Twenty individuals (4.7%) had at least one hypopigmented macule. Of these, four had more than one macule. None had more than three. Two (8%) of the 25 hypopigmented macules were identified only with a Wood lamp. Indirect ophthalmoscopy was performed in 13 (65%) of these 20 individuals. None showed the retinal findings of TS. CONCLUSIONS: The prevalence of hypopigmented macules in the general population has been underestimated. The presence of a few hypopigmented macules on the skin of an otherwise healthy individual without a family history of TS need not prompt an evaluation to rule out this disorder. (J PEDIATR 1996;129:355-61)

Section snippets

METHODS

White subjects younger than 45 years of age were recruited from the general pediatrics and dermatology clinics at Children's Hospital and Medical Center and from a pediatric group practice in the community; siblings and parents of these patients seen in clinics were also examined. Additional subjects were recruited from the community by means of advertisements. Patients who came to the clinics for evaluation of pigmentary problems (with the exception of melanocytic nevi) or diffuse inflammatory

Clinical evaluation

A total of 423 subjects were examined; 50 were younger than 2 years of age, 91 were between the ages of 2 and 10 years, 29 were between the ages of 10 and 17 years, and 253 were older than 18 years of age. The male/female ratio of participants was approximately l:l in all age groups except for those older than 18 years, in which the ratio was 1:2. None of the subjects had a family history of TS.

Twenty subjects had hypopigmented macules that were not associated with prior trauma or inflammation,

DISCUSSION

The diagnosis of TS is made on the basis of a variety of clinical features, several of which are cutaneous. Hypopigmented macules are considered to be the earliest cutaneous manifestation of the disorder12, 13, 14 and are often, but not always, present at birth. Approximately 80% to 90% of patients with TS have hypopigmented macules.10, 30 The prevalence of hypopigmented macules in unaffected individuals is not known. Previous studies have been limited by small sample size,14 screening

References (36)

  • H Northrup et al.

    Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere

    Am J Hum Genet

    (1992)
  • JL Haines et al.

    Genetic heterogeneity in tuberous sclerosis: study of a large collaborative dataset

    Ann N Y Acad Sci

    (1991)
  • AC Stevenson et al.

    Frequency of epiloia in Northern Ireland

    Br J Prev Soc Med

    (1956)
  • NC Nevin et al.

    Diagnostic and genetical aspects of tuberous sclerosis

    J Med Genet

    (1968)
  • J. Zaremba

    Tuberous sclerosis: a clinical and genetical investigation

    J Ment Defic Res

    (1968)
  • A Hunt et al.

    Tuberous sclerosis: a new estimate of prevalence within the Oxford region

    J Med Genet

    (1984)
  • AP Gold et al.

    Depigmented nevi: the earliest sign of tuberous sclerosis

    Pediatrics

    (1965)
  • TB Fitzpatrick et al.

    White leaf-shaped macules: earliest visible sign of tuberous sclerosis

    Arch Dermatol

    (1968)
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    From the Departments of Medicine (Dermatology), Pediatrics (Dermatology and Medical Genetics), Ophthalmology, and Biological Structure, University of Washington School of Medicine and Children's Hospital and Medical Center, Seattle, Washington

    ☆☆

    Supported in part by the Society for Pediatric Dermatology and National Institutes of Health training grant No. AR 07019 and U.S. Public Health Service grant No. AM 21557.

    Reprint requests: Sheryll L. Vanderhooft, MD, University of Utah Health Sciences Center, Department of Dermatology, 50 North Medical Dr., Salt Lake City, UT 84132.

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