X-linked reticulate pigmentary disorder
Findings
No curated finding names X-linked reticulate pigmentary disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.
Definition from the Mondo Disease Ontology (MONDO:0010523), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad eyebrowHPOHP:0011229
- Male
- 2 of 2 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 8 of 14 reported patients · Infantile onset
- 2 of 2 reported patients
- Frontal upsweep of hairHPOHP:0002236
- Male
- 2 of 2 reported patients
- PhotophobiaHPOHP:0000613
- 12 of 12 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 12 of 12 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- POLA1HGNC:9173
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2016
- Moderate · ClinGen · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: X-linked reticulate pigmentary disorder
- Also called
- familial cutaneous amyloidosisPartington diseasePDRpigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessiveX-linked cutaneous amyloidosisXLPDR