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.