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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:X-linked reticulate pigmentary disorder
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Accession:EFO:MONDO:0010523 term browser browse the term
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.
Synonyms:exact_synonym: PDR;   Partington disease;   X-linked cutaneous amyloidosis;   XLPDR;   pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive
 related_synonym: amyloidosis, familial cutaneous;   pigmentary disorder, reticulate, with systemic manifestations;   pigmentary disorder, reticulate, with systemic manifestations, X-linked
 alt_id: MONDO:0010523
 xref: DOID:0111834;   GARD:16756;   ICD10EXP:E85.0+;   ICD10EXP:L99.0*;   MEDGEN:336844;   MESH:C564461;   MIM:301220;   ORDO:85453;   SCTID:717224002;   UMLS:C1845050


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        disease 0
          connective tissue disease 0
            hereditary disorder of connective tissue 0
              X-linked reticulate pigmentary disorder 0
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  experimental factor 0
    material property 0
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        disease 0
          musculoskeletal system disease 0
            skeletal system disease 0
              rheumatic disease 0
                autoinflammatory syndrome 0
                  type 1 interferonopathy 0
                    type 1 interferonopathy of childhood 0
                      X-linked reticulate pigmentary disorder 0
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