An X-linked reticulate pigmentary disorder with systemic manifestations: report of a second family

Pediatr Dermatol. 1993 Dec;10(4):344-51. doi: 10.1111/j.1525-1470.1993.tb00396.x.


Another family manifesting an X-linked, reticulate, pigmentary dermatosis, previously familial cutaneous amyloidosis, has been observed. The disorder is characterized in males in this family by onset in the first year of recurrent episodes of respiratory illness including pneumonia, a progressive reticulate pigmentation of the skin, hypohidrosis, and photophobia. The absence of amyloid deposits in the skin in both the mother and sons confirms that less emphasis should be given to the word "amyloidosis" in naming the disorder.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amyloidosis / diagnosis
  • Amyloidosis / genetics
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Genetic Linkage*
  • Humans
  • Hypohidrosis / complications
  • Male
  • Pedigree
  • Pigmentation Disorders / complications
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • Respiratory Tract Diseases / complications
  • Skin Diseases / diagnosis
  • X Chromosome*