Opis choroby * EnglishPolish Pobierz sekcję do PDF Definicja 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. Dane Klasyfikacja Choroba Synonimy Familial cutaneous amyloidosis Amyloidoza skórna sprzężona z chromosomem X Choroba Partingtona PDR Rodzinna amyloidoza skórna XLPDR PDR Partington disease X-linked cutaneous amyloidosis XLPDR Kod ORPHA 85453 Kod OMIM 301220 Kod ICD10 L99.0* Kod ICD11 5D00.Y *Źródło Rozszerzony opis choroby Pobierz sekcję do PDF Brak opisu rozszerzonego dla tej choroby. Opracowanie w toku. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl