X-linked reticulate pigmentary disorder
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.
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0100118
hereditary skin disorder
is_a
MONDO:0957408
type 1 interferonopathy of childhood
is_a
PDR
exact
Partington disease
exact
X-linked cutaneous amyloidosis
exact
XLPDR
exact
familial cutaneous amyloidosis
exact
pigmentary disorder, reticulate, with systemic manifestations
related
pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive
exact
SPAC3H5.06c