Inherited Reticulate Pigmentary Disorders

Abstract

Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli–Franceschetti–Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), and X-linked reticulate pigmentary disorder. Although reticulate pattern of pigmentation is a common characteristic of this spectrum of disorders, the distribution of pigmentation varies among these disorders, and there may be clinical manifestations beyond pigmentation. DSH, DUH, and RAK are mostly reported in East Asian ethnicities. DDD is more common in Caucasians, although it is also reported in Asian countries. Other RPDs show no racial predilection. This article reviews the clinical, histological, and genetic variations of inherited RPDs.

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

“…Males manifest a prominent reticulate hyperpigmentation with mottled hypopigmentation and typical facial features, such as upswept frontal hairline and flared eyebrows, with additional systemic manifestations, such as hypohidrosis gastrointestinal inflammation, recurrent respiratory infections, failure to thrive, and photophobia due to corneal opacification. Heterozygous females have milder disease consisting of brown patchy pigmentary skin lesions along the lines of Blaschko (secondary to the clonal proliferation of keratinocytes developed from postzygotic mutations), without systemic manifestations ( 72 , 73 ).…”

“…Males affected by XLRPD may occasionally present with photophobia due to corneal dyskeratosis and opacification ( 73 , 75 ).…”