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Course: X-Linked Reticulate Pigmentary Disorder

CME Credits: 1.00

Released: 2023-10-18

A 7-year-old boy presented with generalized reticulate hyperpigmentation over his entire body that had been present since age 1 year. He was born to nonconsanguineous parents and experienced recurrent pneumonia, hypohidrosis, photophobia, and frequent diarrhea during childhood. Physical examination revealed diffuse dark background skin with overlying depigmented spots, displaying a pattern of reticulate hyperpigmentation (, A). Coarse silver-gray hair with frontal hairline upsweep and flared eyebrows were prominent (, B). He had no alopecia, vesiculation, or palmoplantar keratoderma. Routine laboratory results were normal. Fiberoptic bronchoscopy indicated endobronchial inflammation. Histopathology showed mild hyperkeratosis, acanthosis with increased melanophages, and melanin in the upper dermis. Whole-genome sequencing revealed the hemizygous POLA1 gene variation, confirming the diagnosis of X-linked reticulate pigmentary disorder (XLPDR). His half-brother, from the same mother but different father, also exhibited similar skin manifestations and systemic symptoms.


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