Updated review of genetic reticulate pigmentary disorders

Abstract

Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, there is a large degree of overlap between the disorders and therefore they are difficult to differentiate in the clinical setting. This updated review provides a clinical and molecular delineation of these genetic reticulate pigmentary disorders and aims to establish a concise diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis, as well as to provide useful information for clinical and genetic counselling.

Speckled acral hypopigmentation: A new pigmentary disorder or an unknown presentation of a known disorder?

“…[4] Dowling–Degos disease is characterized by the presence of hyperpigmented macules over the flexures along with comedonal papules on the back and neck. [3] Rarely, Dowling–Degos disease presenting as hypopigmented macules similar to our case has been described, but in this case lesions were widely distributed over the chest, back, axilla, upper arms, and inguinal folds and there was no clustering of lesions. [5] Acropigmentation of Dohi shows presence of both hyper and hypopigmented macules on the hands and feet, which may extend to the proximal extremities and face.…”

“…[2] Reticulate acropigmentation of Kitamura is characterized by the presence of well-defined atrophic hyperpigmented macules on the dorsum of hands and feet, palmar pits, and break in dermatoglyphics. [3] Rare cases of disseminated hypo- or depigmented macules and papules are described, but presence of only hypopigmented macules is not seen in this condition. [4] Dowling–Degos disease is characterized by the presence of hyperpigmented macules over the flexures along with comedonal papules on the back and neck.…”

Just vulval lichen simplex?

“…Associated features vary and may include comedone‐like lesions, palmoplantar pits and interrupted dermatoglyphics. The disorder usually follows a benign course, with treatment usually required only for cosmetic reasons …”

Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation

“…Dyschromatosis universalis hereditaria (DUH; MIM: 127500, 612715) is characterized by generalized mottled hypopigmented and hyperpigmented macules involving the face, trunk and extremities . Genetically, it shows heterogeneity, with at least two causative genes, ABCB6 and SASH1 , reported …”

“…Our patient showed localized distribution of hyperpigmentation with late onset, as well as pitting, which is a feature previously undescribed in DUH. These atypical presentations could lead to misdiagnosis of SASH1 ‐related skin dyschromia or DDD …”