has material basis in germline mutation in POLA1 X-linked reticulate pigmentary disorder https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/6742 https://github.com/monarch-initiative/mondo/issues/6878 https://github.com/monarch-initiative/mondo/issues/7365 https://www.malacards.org/card/partington_syndrome https://www.malacards.org/card/pigmentary_disorder_reticulate_with_systemic_manifestations_x_linked Partington disease pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive OMIM:301220 Orphanet:85453 GARD:0016756 DOID:0111834 X-linked cutaneous amyloidosis PDR MONDO:0010523 MEDGEN:336844 pigmentary disorder, reticulate, with systemic manifestations amyloidosis, familial cutaneous UMLS:C1845050 SCTID:717224002 familial cutaneous amyloidosis MESH:C564461 This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'connective tissue disorder' (MONDO:0018153) ontology branch (https://orcid.org/0000-0002-1780-5230) XLPDR pigmentary disorder, reticulate, with systemic manifestations, X-linked 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. hereditary disorder of connective tissue hereditary skin disorder type 1 interferonopathy of childhood