X-linked reticulate pigmentary disorder with systemic manifestations: Report of a third family and literature review

Robert C. Anderson, Andrew R. Zinn, June Kim, K. Robin Carder

Research output: Contribution to journalReview article

18 Scopus citations

Abstract

Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse reticulate macular hyperpigmentation with onset in early childhood. In addition, these boys had hypohydrosis, coarse hair with an upswept frontal hairline, failure to thrive, and chronic pulmonary disease. The older boy also had corneal dystrophy and marked photophobia. A punch biopsy specimen from the 11-year-old showed melanophages and necrotic keratinocytes. Stains for amyloid were negative. The sister, age 2 years, had congenital linear hyperpigmented patches involving the intertrigenous areas, but was otherwise normal. The clinical findings of these children were consistent with X-linked reticulate pigmentary disorder with systemic manifestations. We present a summary of the clinical manifestations of this rare disorder and discuss efforts to identify the causative gene.

Original languageEnglish (US)
Pages (from-to)122-126
Number of pages5
JournalPediatric dermatology
Volume22
Issue number2
DOIs
StatePublished - Mar 1 2005

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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