<unk>  with systematic manifestations<unk>  is a rare X-linked genetic condition in which males manifest multiple systemic symptoms and a<unk> d mottled brown pigmentation of the skin, which, on biopsy, demonstrated dermal deposits of amyloid. Females usually only have linear streaks of hyperpigmentation. The syndrome is also referred to by the acronym X-Linked-PDR or XLPRD. It's a very rare disease, genetically determined, with a chronic course. It was characterized in 1981. Mutation of the POLA1 gene leads to loss of expression of the catalytic subunit of DNA polymerase-α and is responsible for XLPDR. Loss of POLA1 expression results in reduced levels of RNA:DNA hybrids in the cytosol and unexpectedly triggers aberrant immune responses (e.g. type I interferon production) which at least in part can account for the symptoms associated with XLPDR. Another trigger of the immunodeficiency phenotype is a functional deficiency of NK cells, major players of innate antiviral immune system.
X-linked reticulate pigmentary disorder
Pure hair-nail type ectodermal dysplasia
Oculocutaneous albinism
Linear atrophoderma of Moulin
Yemenite deaf-blind hypopigmentation syndrome
Spastic ataxia-corneal dystrophy syndrome
Oculocutaneous albinism type I
Aromatic L-amino acid decarboxylase deficiency