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Dyschromatosis universalis hereditaria
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Dyschromatosis universalis hereditaria

Contributors: Tyler Werbel MD, Susan Burgin MD
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Synopsis

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis that presents with early onset of diffuse mottled pigmentation. It is seen predominantly in individuals of Japanese descent, although cases have been described in multiple different populations worldwide. The majority of cases are inherited in an autosomal dominant fashion, but autosomal recessive and sporadic cases have been reported. Mutations in the ABCB6 (ATP-binding cassette subfamily B, member 6) gene on chromosome 2q have been linked to autosomal dominant cases of DUH, but the pathogenesis largely remains unknown. Two other genetic loci, 6q24.2-q25.2 and 12q21-q23, have been linked to DUH, but no causative genes have been identified.

DUH is characterized by asymptomatic, reticular, hyper- and hypopigmented macules of irregular shape and size that are distributed diffusely over the trunk and extremities. While involvement of the face is present in roughly 50% of affected individuals, palms and soles are typically spared. Dyspigmentation usually appears in infancy or early childhood and persists throughout life.

In general, DUH is skin limited, but there have been reports of associated conditions, including cataracts, diabetes, glaucoma, hypothyroidism, intellectual disability, photosensitivity, primary ovarian insufficiency, sensorineural hearing loss, small stature, tuberous sclerosis, and X-linked ocular albinism.

Related topic: dyschromatosis symmetrica hereditaria

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
239082002 – Dyschromatosis universalis

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Congenital and inherited pigmentary disorders:
  • Reticulate acropigmentation of Kitamura – reticular hyperpigmentation over dorsal hands and feet without hypopigmented macules, atrophic skin, palmoplantar pitting
  • Dyschromatosis symmetrica hereditaria – reticular hypo- and hyperpigmented macules limited to face and acral areas
  • Xeroderma pigmentosum – photosensitivity with progressive xerosis, atrophy, and telangiectasias on sun-exposed areas, predilection for skin cancers at a young age, autosomal recessive inheritance
  • Reticulate pigmented anomaly of flexures (Dowling-Degos disease) – brown-black hyperpigmentation of the flexures, often in axilla, neck, and inframammary areas, perioral acneiform scars
  • Dermatopathia pigmentosa reticularis – noncicatricial alopecia, onychodystrophy
  • Naegeli syndrome – abnormal sweating, adermatoglyphia, and palmoplantar keratoderma
  • Dyskeratosis congenita – idiopathic pulmonary fibrosis, nail dystrophy, palmoplantar hyperkeratosis, premalignant leukoplakia, progressive pancytopenia, telangiectasias
Acquired pigmentation disorders:
  • Amyloidosis cutis dyschromica – biopsy showing amyloid deposition
  • Vitiligo
  • Chemical leukoderma or drug-induced leukoderma
  • Idiopathic guttate hypomelanosis

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:05/15/2018
Last Updated:01/13/2022
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Dyschromatosis universalis hereditaria
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A medical illustration showing key findings of Dyschromatosis universalis hereditaria : Irregular configuration, Trunk, Hyperpigmented macules, Hypopigmented macules
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