Dyschromatosis symmetrica hereditaria

A rare genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.



Input patient's signs and symptoms


Narrow down the case reports



Total: 25 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
4
(4.0%)		 10233273
 Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases.
Oyama M, Shimizu H, Ohata Y, Tajima S, Nishikawa T.
Br J Dermatol. 1999;140(3):491-6.
Hypopigmented macule
Child Females Foot Dermatoses Genes, Dominant Hand Dermatoses Homo sapiens Japan Male Middle Aged Pigmentation Disorders
4
(4.0%)		 9263313
 Neurofibromatosis and reticulate acropigmentation of Dohi: a case report.
Tan HH, Tay YK.
Pediatr Dermatol. 1997;14(4):296-8.
Macule
NF1
Homo sapiens Male Neurofibromatosis 1 Pigmentation Disorders
4
(4.0%)		 8857341
 Reticulate acropigmentation of Dohi.
Ostlere LS, Ratnavel RC, Lawlor F, Black MM, Griffiths WA.
Clin Exp Dermatol. 1995;20(6):477-9.
Macule
Adult Facial Dermatoses Homo sapiens Leg Dermatoses Male Pigmentation Disorders Skin Pigmentation Wrist
4
(4.0%)		 7911621
 Dyschromatosis symmetrica hereditaria associated with idiopathic torsion dystonia. A case report.
Patrizi A, Manneschi V, Pini A, Baioni E, Ghetti P.
Acta Derm Venereol. 1994;74(2):135-7.
Vitiligo
Adult Child DNA Repair Dystonia Musculorum Deformans Females Homo sapiens Male Pigmentation Disorders Skin
4
(4.0%)		 3809028
 A case of xeroderma pigmentosum with clinical appearance of dyschromatosis symmetrica hereditaria.
Nishigori C, Miyachi Y, Takebe H, Imamura S.
Pediatr Dermatol. 1986;3(5):410-3.
Mottled pigmentation
Child DNA DNA Repair Differential Diagnosis Homo sapiens Male Pigmentation Disorders Xeroderma Pigmentosum
        

Phenotype(s) retrieved from Orphanet

    Total: 4

HPO ID Term Frequency
HP:0007988 Macular hypopigmentation Very frequent (99-80%)
HP:0011509 Macular hyperpigmentation Very frequent (99-80%)
HP:0012733 Macule Very frequent (99-80%)
HP:0001304 Torsion dystonia Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0020073 Hypopigmented macule 7
HP:0001480 Freckling 2
HP:0001070 Mottled pigmentation 1
HP:0001268 Mental deterioration 1
HP:0001332 Dystonia 1
HP:0010783 Erythema 1
HP:0012733 Macule 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ADAR adenosine deaminase RNA specific 103