X-linked reticulate pigmentary disorder

with systemic manifestations
X-linked-PDR home page
What is this website?
Administrator 14 November 2011 PDF Print E-mail

My name is Patrizia Gentile, I'm this website administrator, and Alex's mother. My son is suffering from X-linked pigmentary Reticulata Disorder with Systematic manifestations.

We will call it X-linked-pdr, in short XLPDR.

The X-linked-pdr was originally called family amyloidosis cutaneous or x-linked amyloidosis cutaneous. Then, after further investigations on known cases, symptomps emerged to be different and the disease name has been changed to the present one.

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.

Many doctors think that XLPDR can be considered one of the many forms of the Ectodermal Dysplasia. Many XLPDR symptoms are the same as those of the Ectodermal Dysplasia.

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:

- Respiratory infections

- Hypodontia

- Dyskeratosis corneal photophobia

- Hypohidrosis with large deficit of thermoregulation

- Curved nails with microfractures

- Dry skin

- Growth retardation (height & weight)

- Gastrointestinal disorders (reflux, diarrhea and colitis)

- Kidney disease

- Kidney stones

- Urinary infections

- Webbed feet or hands

- Electrolyte imbalance

- Hyperpigmentation of the retina

- Lymphoedema

- Thyroid abnormalities

Please consider that every boy is a different story. Some could show few symptoms, some could show more. Don't think your son will show all of them! His own story could really be better!

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.

Given the rarity of this disease (to date there are only six families in the world) and given the lack of medical information on this disease, we had the idea to create this website dedicated exclusively to the X-linked-pdr.

On this site you will find:

- Articles on the X-linked.pdr

- Referring physician

- Stories

- Photos

- Possible contacts with other families

This website started its operation on January 2011.

Before to start with this website, we opened a Facebook Group and a Facebook Page.

Our aim is twofold:

• we want to collect information about the X-linked-PDR because this is a very rare disease and doctors often are not informed about it. Information will be made available to our users.

• we want to become a meeting point for XLPRD patients, families and doctors. This disease is so rare that a worldwide meeting point is mandatory.

Our Facebook group will be where we will meet, chat and exchange information.

This website will be the repository for information gathered on the Facebook page.

Our goal is to help all those who come after us, but we can not do it alone. We need your help.

Patrizia Gentile

 
Australia
Administrator 29 March 2011 PDF Print E-mail

Dear friends from Australia.
This letter is for you. You that look at my facebook page, at my website. You that decided to keep in the shade.