Pigmentary Disorder, Reticulate, with Systemic Manifestations

Alternative Names

  • PDR
  • Amyloidosis, Familial Cutaneous
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WHO-ICD-10 version:2010

Diseases of the skin and subcutaneous tissue

Other disorders of the skin and subcutaneous tissue

OMIM Number

301220

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xp22.1-p21.3

Description

The X- linked reticulate pigmentary disorder with systemic manifestations is a rare skin disorder characterized by a hyperpigmentation disorder of the skin. This disorder is mild in females showing brown pigmentation of the skin which follows the lines of Blaschko, while it is severe appearing as reticulate sheets in males. 

The reticulate pigmentary disorder with systemic manifestation is an X- linked disease which has been mapped to a locus in Xp22-p21.

Epidemiology in the Arab World

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Other Reports

Lebanon

Megarbane et al. (2005) reported a boy of first cousin parents with X-linked reticulate pigmentary disorder with systemic manifestations.  Molecular analysis of the androgen receptor gene of the mother showed a skewed X inactivation pattern in blood lymphocytes, superior to 95%, which demonstrated her carrier status.

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