title: X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review.
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.
authors.affiliation: Department of Dermatology, University of Texas Southwestern Medical School, Dallas, Texas 75390, USA.
authors.forename: Robert C
authors.initials: RC
authors.lastname: Anderson
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Zinn
authors.forename: June
authors.initials: J
authors.lastname: Kim
authors.forename: K Robin
authors.initials: KR
authors.lastname: Carder
mesh_terms: D002648:Child; D002675:Child, Preschool; D003317:Corneal Dystrophies, Hereditary / Q000150:complications; D005183:Failure to Thrive / Q000150:complications; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D020795:Photophobia / Q000150:complications; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis*; D012867:Skin / Q000473:pathology*