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X‐linked Reticulate Pigmentary Disorder with Systemic Manifestations: Report of a Third Family and Literature Review
Author(s) -
Anderson Robert C.,
Zinn Andrew R.,
Kim June,
Carder K. Robin
Publication year - 2005
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2005.22206.x
Subject(s) - medicine , dermatology , photophobia , hyperpigmentation , reticulate , failure to thrive , skin biopsy , biopsy , pathology , pediatrics , surgery , botany , biology
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.