X-linked reticulate pigmentary disorder

with systemic manifestations
Administrator 30 January 2011 PDF Print E-mail

XLPDR stays for X-Linked Reticulate Pigmentary disorder with systemic manifestation.

The X-linked-pdr was originally called "family cutaneous amyloidosis " or "x-linked cutaneous amyloidosis"

It's a very rare disease, genetically determined, with a chronic course. The gene responsible for the disease has not yet been identified. It is expected to be in the range of Xp21-Xp22.

Affected males develop generalized reticular hyper pigmentation in early childhood.

Hair often looks bedraggled or brushed backwards, hanging low on the forehead.

Among the associated extracutaneous manifestations are described:

- Dyskeratosis corneal photophobia

- Hypohidrosis with large deficit of thermoregulation

- Growth retardation

- Gastrointestinal disorders

- Kidney disease

- Kidney stones

- Urinary infections

- Webbed feet or hands

In females the disease is characterized by skin rashes linear hyper pigmentation following the lines of Blansko, morphologically similar to stage 3 pigment incontinence. There are no systemic manifestations associated with XLPDR in females.