Living with X-linked reticulate pigmentary disorder
An extremely rare genetic condition that mainly affects the skin, and in males can also affect the lungs, eyes, gut and growth.
Understanding X-linked reticulate pigmentary disorder
GARD says this condition has been described in only four families. Males develop net-like brown skin patches in early childhood. They can also have lung, eye, gut, bladder-outlet and growth problems. Females usually have only skin changes, with brown patches that follow the lines of Blaschko (a pattern of skin lines).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Net-like brown skin patches (reticular hyperpigmentation)
- Repeated pneumonia
- Scarring of the clear front of the eye (cornea)
- Chronic diarrhea and colitis (inflamed bowel)
- Less ability to sweat (hypohidrosis)
- Narrowing of the urine tube (urethral stricture)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, allergy and immune system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in POLA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the POLA1 gene cause this condition. It is inherited in an X-linked way, meaning the gene is on the X chromosome.
Also known as: familial cutaneous amyloidosis; partington disease; pdr; pigmentary disorder, reticulate, with systemic manifestations, x-linked; pigmentary disorder, reticulate, with systemic manifestations, x-linked, x-linked recessive; x-linked cutaneous amyloidosis
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked reticulate pigmentary disorder.
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