Description of the disease * 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. Disease data Klasyfikacja Disease 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 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl