Contents

Search

dyschromatosis universalis hereditaria

Epidemiology: - rare - reported initially & mainly in Japan & Korea [1] 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 [1,2] 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) [1] - 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 [2] - 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) [1] * images [1,2]

General

genetic disease of the skin (genodermatosis)

Database Correlations

OMIM 127500

References

  1. Yadalla HK, Pinninti S, Babu AR Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India. Indian J Hum Genet. 2013 Oct;19(4):487-90. PMID: 24497720 Free PMC Article
  2. Naveen KN, Dinesh US. Dyschromatosis universalis hereditaria with involvement of palms. Indian Dermatol Online J. 2014 Jul;5(3):296-9. PMID: 25165647 Free PMC Article
  3. Genetic and Rare Disease Information Center Dyschromatosis universalis hereditaria https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria