X-linked reticulate pigmentary disorder
MONDO:0010523
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.
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X-linked reticulate pigmentary disorder
X-linked reticulate pigmentary disorder is a rare X-linked genetic condition in which males manifest multiple systemic symptoms and a reticulated mottled brown pigmentation of the skin, which, on biopsy, demonstrated dermal deposits of amyloid. Females usually only have linear streaks of hyperpigmentation. The syndrome can also be referred to by the acronym X-Linked-PDR or XLPRD. Its a very rare recessive disease, genetically determined, with a chronic course. It was characterized in 1981. Mutation of the POLA1 gene lead to loss of expression of the catalytic subunit of DNA polymerase-α and is responsible for XLPDR. Loss of POLA1 expression resulted in reduced levels of RNA:DNA hybrids in the cytosol and unexpectedly triggered aberrant immune responses (e.g. type I interferon production) which in part can account for the symptoms associated with XLPDR. Another trigger of the immunodeficiency phenotype is a functional deficiency of Natural killer (NK) cells, which are major players in innate antiviral immune system.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.