dyschromatosis universalis hereditaria

Epidemiology

• rare
• reported initially & mainly in Japan & Korea

Pathology

• epidermis mildly atrophic with hyperkeratosis
• basal layers with mild vacuolar change
• papillary dermis with melanin incontinence, & dilated dermal vessels
• increase in pigment extending into the stratum spinosum
• dermis with mild perivascular & periadnexeal lymphomononuclear infitrate

* histopathology images

Genetics

• autosomal dominant
• dyschromatosis universalis hereditaria-2 maps to chromosome 12q21-q23.
• dyschromatosis universalis hereditaria-3 is caused by mutation in the ABCB6 gene on chromosome 2q35.

Clinical manifestations

• multiple hyperpigmented & hypopigmented lesions over arms, legs, trunk, & buttocks beginning at 3-years-old (case report)
  • lesions started over both legs & gradually spread upwards
  • few lesions had appeared during this time over the hands subsequently spreading upwards to the elbows
  • palms may be involved
  • later, lesions developed over the buttocks & trunk
  • mild involvement of face
• asymptomatic, generalized, 0.5-1 cm hyperpigmented macules interspersed with spotty hypopigmented macules
• mental status subnormal with depression (case report)

* images

More general terms

• genetic disease of the skin (genodermatosis)

Database

• OMIM: https://mirror.omim.org/entry/127500