Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders

Abstract

Reticulated pigmentation is a unique pigmentary change caused by a heterogeneous group of hereditary and acquired disorders. This pigmentation is characterized by a mottled appearance, with lesions that vary in size and pigmentary content. This review discusses the hereditary group of the reticulated pigmentation disorders, such as dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria, and reticulate acropigmentation of Kitamura. The clinical presentation and histopathological features often overlap, making diagnosis difficult. However, each of these hereditary conditions possesses a unique genetic mutation, and genetic analysis is thus more useful in the diagnosis of these conditions. This article delivers an update regarding the clinical features, detailed histopathological description, and genetic information concerning hereditary reticulate pigmentary disorders and aims to provide useful background for use by clinical dermatologists and histopathologists when approaching this group of hereditary disorders.

Figure 1

Dyschromatosis symmetrica hereditaria: extensive mixed hypo- and hyperpigmented macules over the dorsal aspect of the upper limb.

Figure 2

Clinical findings of dyschromatosis universalis hereditaria in a mother and her son: multiple hyper- and hypopigmented macules of varying sizes can be noted over the trunk and upper limb ((a)–(c)).

Figure 3

Reticulate acropigmentation of Kitamura: pronounced reticulated and confluent hyperpigmentation is noted over the dorsum of the hand.

Figure 4

Reticulate acropigmentation of Kitamura: hyperpigmented macules over the ventral side of the distal forearm (a). Multiple pits are evident over the line of the palmar creases (b).

Figure 5

Dermatopathia pigmentosa reticularis: extensive hyperpigmentation in a reticulated pattern is noted on the dorsal aspect of the feet and the palms ((a)-(b)). Persistent reticulated hyperpigmentation that is widespread over the trunk (c).