X-gebonden reticulaire pigmentstoornis met systemische manifestatie (aandoening)
X-gebonden reticulaire pigmentstoornis met systemische manifestatie
ziekte van Partington
X-gebonden reticulaire pigmentstoornis
X-linked reticulate pigmentary disorder with systemic manifestation syndrome
Partington disease
An extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented 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.
Associated morphologyhyperpigmentatie
Finding sitestructuur van huid
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige zwakzinnigheid; Zonder vermelding van gedragsstoornissen
SNOMED CT to Orphanet simple map85453
SNOMED CT to ICD-10 extended map
AdviceALWAYS L81.8
CorrelationSNOMED CT source code to target map code correlation not specified