TY - JOUR
T1 - X-linked reticulate pigmentary disorder with systemic manifestations
T2 - Report of a third family and literature review
AU - Anderson, Robert C.
AU - Zinn, Andrew R.
AU - Kim, June
AU - Carder, K. Robin
PY - 2005/3
Y1 - 2005/3
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1525-1470.2005.22206.x
DO - 10.1111/j.1525-1470.2005.22206.x
M3 - Review article
C2 - 15804299
AN - SCOPUS:16344394789
SN - 0736-8046
VL - 22
SP - 122
EP - 126
JO - Pediatric dermatology
JF - Pediatric dermatology
IS - 2
ER -