Dyschromatosis symmetrica hereditaria

General Information (adopted from Orphanet):

Synonyms, Signs: SYMMETRIC DYSCHROMATOSIS OF THE EXTREMITIES
RETICULATE ACROPIGMENTATION OF DOHI
DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1
DSH
DSH1
RAD
Acropigmentation of Dohi
Number of Symptoms 33
OrphanetNr: 41
OMIM Id: 127400
ICD-10: L81.8
UMLs: C0406775
MeSH: C535729
MedDRA:
Snomed: 239085000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin disease

Comment:

Dyschromatosis symmetric hereditary is caused by mutations in the gene ADAR encoding the RNA-specific enzyme adenosine deaminase. It is predominantly transmitted in an autosomal dominant manner with high penetrance, but families with autosomal recessive transmission do exist (PMID:22722384). It is a rare pigmentary genodermatosis which is characterized by a combination of hyperpigmented and hypopigmented macules. The clinical symptoms are similar to dyschromatosis universalis hereditaria (PMID:25382520). Up to now, there is no definitive treatment for this disease.

Symptom Information: Sort by abundance 

1
 (HPO:0000343) Long philtrum 19584476 IBIS 262 / 7739
2
 (HPO:0000643) Blepharospasm Frequent [Orphanet] X 20 / 7739
3
 (HPO:0001999) Abnormal facial shape 19584476 IBIS 169 / 7739
4
 (HPO:0000473) Torticollis Frequent [Orphanet] 16817193 IBIS 42 / 7739
5
 (HPO:0000508) Ptosis 19584476 IBIS 459 / 7739
6
 (HPO:0006801) Hyperactive deep tendon reflexes 25382520 IBIS 21 / 7739
7
 (HPO:0000737) Irritability 16817193 IBIS 93 / 7739
8
 (HPO:0001304) Torsion dystonia 7911621 IBIS 13 / 7739
9
 (HPO:0000716) Depression 25382520 IBIS 99 / 7739
10
 (HPO:0000719) Inappropriate behavior 25382520 IBIS 5 / 7739
11
 (HPO:0001288) Gait disturbance 25382520 IBIS 318 / 7739
12
 (HPO:0002533) Abnormal posturing 19584476 IBIS 6 / 7739
13
 (HPO:0002356) Writer's cramp Frequent [Orphanet] X 16 / 7739
14
 (HPO:0000729) Autistic behavior 25382520 IBIS 27 / 7739
15
 (HPO:0001268) Mental deterioration 16817193 IBIS 88 / 7739
16
 (HPO:0001332) Dystonia Frequent [Orphanet] 25382520 IBIS 197 / 7739
17
 (HPO:0000750) Delayed speech and language development 25382520 IBIS 197 / 7739
18
 (HPO:0001276) Hypertonia 25382520 IBIS 317 / 7739
19
 (HPO:0001250) Seizures 25382520 IBIS 1245 / 7739
20
 (HPO:0002376) Developmental regression 25382520 IBIS 74 / 7739
21
 (HPO:0002514) Cerebral calcification 16817193 IBIS 89 / 7739
22
 (HPO:0002135) Basal ganglia calcification 25382520 IBIS 37 / 7739
23
 (HPO:0002571) Achalasia 22594859 IBIS 19 / 7739
24
 (HPO:0001034) Hypermelanotic macule Very frequent [Orphanet] 25382520 IBIS 22 / 7739
25
 (HPO:0005585) Spotty hyperpigmentation 25382520 IBIS 8 / 7739
26
 (HPO:0007400) Irregular hyperpigmentation Very frequent [Orphanet] 25382520 IBIS 72 / 7739
27
 (HPO:0007441) Hyperpigmented/hypopigmented macules Very frequent [IBIS] 25382520 IBIS 6 / 7739
28
 (HPO:0007588) Reticular hyperpigmentation Very frequent [Orphanet] 25382520 IBIS 9 / 7739
29
 (HPO:0007427) Reticulated skin pigmentation Very frequent [Orphanet] 25382520 IBIS 7 / 7739
30
 (HPO:0001053) Hypopigmented skin patches Very frequent [Orphanet] 25382520 IBIS 80 / 7739
31
 (HPO:0007587) Numerous pigmented freckles 25382520 IBIS 22 / 7739
32
 (HPO:0005590) Spotty hypopigmentation Very frequent [Orphanet] hallmark [HPO] 25382520 IBIS 10 / 7739
33
 (MedDRA:10025421) Macule Very frequent [Orphanet] X 55 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dyschromatosis symmetrica hereditaria (DSH), also called symmetric dyschromatosis of the extremities and symmetric or reticulate acropigmentation of Dohi (Komaya, 1924), is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear ...
Clinical Description OMIM Patrizi et al. (1994) described a 9-year-old Caucasian girl with a mixture of hyperpigmented and hypopigmented macules on the backs of the feet. Two brothers had the same lesions, and all had small freckle-like pigmented macules on their ...
Molecular genetics OMIM In affected members of 4 Japanese families segregating DSH, Miyamura et al. (2003) identified heterozygous mutations in the ADAR gene (146920.0001-146920.0004).

In affected members of 6 Chinese multigeneration families and 2 sporadic patients with DSH, Zhang ...
Population genetics OMIM Miyamura et al. (2003) stated that the prevalence of DSH in the Japanese population is estimated to be 1.5 per 100,000.