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Dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi is an autosomal dominant disorder caused by mutations of the ADAR gene. It is characterized by hypo- and hyperpigmented macules on limbs that manifest in early childhood.

Systematic

Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Dyschromatosis symmetrica hereditaria
ADAR
Ectodermal dysplasia and immunodeficiency
Epidermolysis bullosa
Familial acne inversa 1
Griscelli syndrome type 2
Hermansky-Pudlak syndrome 2
Incontinentia pigmenti
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Interleukin 36 receptor antagonist deficiency
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Neonatal inflammatory skin and bowel disease type 1
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism
Psoriasis
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Susceptibility to vitiligo-associated multiple autoimmune disease 1

References:

1.

Miyamura Y et al. (2003) Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

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2.

Chao SC et al. () A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria.

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3.

Patrizi A et al. (1994) Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report.

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4.

Urabe K et al. (1997) Dyschromatosis.

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5.

Oyama M et al. (1999) Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases.

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6.

Kono M et al. (2000) Exclusion of linkage between dyschromatosis symmetrica hereditaria and chromosome 9.

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7.

Alfadley A et al. (2000) Reticulate acropigmentation of Dohi: a case report of autosomal recessive inheritance.

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8.

Zhang XJ et al. (2003) Identification of a locus for dyschromatosis symmetrica hereditaria at chromosome 1q11-1q21.

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9.

Xing QH et al. (2003) A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.

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10.

None (1952) Genetical studies on skin diseases. VII. Dyschromatosis universalis hereditaria in 5 generations.

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11.

Müller CS et al. () The spectrum of reticulate pigment disorders of the skin revisited.

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Update: June 23, 2025
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