Dyschromatosis symmetrica hereditaria: A retrospective case series and literature review

Amy Chia Ying Peng, Yi An Chen, Sheau-Chiou Chao

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background/Objective: Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities. This study aimed to delineate the unique clinical, histological, and genetic features of DSH in a Taiwanese population. Methods: A retrospective review of clinical charts and archival photographs was performed for patients diagnosed with DSH in a medical center in Taiwan between 1992 and 2011. Results: A total of 25 patients (mean age at diagnosis 20.3 years) were given the clinical diagnosis of DSH. The male:female ratio was 14:11. Positive family history was noted in 14 patients (56%). The pattern of inheritance was basically autosomal dominant. Twelve patients (48%) had typical hypo- and hyperpigmented macules distributed on the dorsal aspects of the extremities. Six patients (24%) had coexistence of other diseases, particularly seizure, mental retardation, and autism. Mutation analyses were done on 12 patients (48%), with three novel mutations previously identified. Skin biopsy specimens were obtained from seven patients (28%). Six of those had pathological findings consistent with the diagnosis of DSH. Conclusion: With this series, we hope to add to the DSH mutation database and contribute further to the understanding of DSH genotype/phenotype correlations.

Original languageEnglish
Pages (from-to)19-24
Number of pages6
JournalDermatologica Sinica
Volume31
Issue number1
DOIs
Publication statusPublished - 2013 Mar 1

Fingerprint

Mutation
Extremities
Inheritance Patterns
Genetic Association Studies
Autistic Disorder
Dyschromatosis symmetrica hereditaria 1
Taiwan
Intellectual Disability
Seizures
Databases
Biopsy
Skin
Population

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

@article{eca9e97bcf004138a71c33bc712bdc0b,
title = "Dyschromatosis symmetrica hereditaria: A retrospective case series and literature review",
abstract = "Background/Objective: Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities. This study aimed to delineate the unique clinical, histological, and genetic features of DSH in a Taiwanese population. Methods: A retrospective review of clinical charts and archival photographs was performed for patients diagnosed with DSH in a medical center in Taiwan between 1992 and 2011. Results: A total of 25 patients (mean age at diagnosis 20.3 years) were given the clinical diagnosis of DSH. The male:female ratio was 14:11. Positive family history was noted in 14 patients (56{\%}). The pattern of inheritance was basically autosomal dominant. Twelve patients (48{\%}) had typical hypo- and hyperpigmented macules distributed on the dorsal aspects of the extremities. Six patients (24{\%}) had coexistence of other diseases, particularly seizure, mental retardation, and autism. Mutation analyses were done on 12 patients (48{\%}), with three novel mutations previously identified. Skin biopsy specimens were obtained from seven patients (28{\%}). Six of those had pathological findings consistent with the diagnosis of DSH. Conclusion: With this series, we hope to add to the DSH mutation database and contribute further to the understanding of DSH genotype/phenotype correlations.",
author = "Peng, {Amy Chia Ying} and Chen, {Yi An} and Sheau-Chiou Chao",
year = "2013",
month = "3",
day = "1",
doi = "10.1016/j.dsi.2012.08.005",
language = "English",
volume = "31",
pages = "19--24",
journal = "Dermatologica Sinica",
issn = "1027-8117",
publisher = "Elsevier",
number = "1",

}

Dyschromatosis symmetrica hereditaria : A retrospective case series and literature review. / Peng, Amy Chia Ying; Chen, Yi An; Chao, Sheau-Chiou.

In: Dermatologica Sinica, Vol. 31, No. 1, 01.03.2013, p. 19-24.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Dyschromatosis symmetrica hereditaria

T2 - A retrospective case series and literature review

AU - Peng, Amy Chia Ying

AU - Chen, Yi An

AU - Chao, Sheau-Chiou

PY - 2013/3/1

Y1 - 2013/3/1

N2 - Background/Objective: Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities. This study aimed to delineate the unique clinical, histological, and genetic features of DSH in a Taiwanese population. Methods: A retrospective review of clinical charts and archival photographs was performed for patients diagnosed with DSH in a medical center in Taiwan between 1992 and 2011. Results: A total of 25 patients (mean age at diagnosis 20.3 years) were given the clinical diagnosis of DSH. The male:female ratio was 14:11. Positive family history was noted in 14 patients (56%). The pattern of inheritance was basically autosomal dominant. Twelve patients (48%) had typical hypo- and hyperpigmented macules distributed on the dorsal aspects of the extremities. Six patients (24%) had coexistence of other diseases, particularly seizure, mental retardation, and autism. Mutation analyses were done on 12 patients (48%), with three novel mutations previously identified. Skin biopsy specimens were obtained from seven patients (28%). Six of those had pathological findings consistent with the diagnosis of DSH. Conclusion: With this series, we hope to add to the DSH mutation database and contribute further to the understanding of DSH genotype/phenotype correlations.

AB - Background/Objective: Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis characterized by hyper- and hypopigmented macules on the face and dorsal aspects of the extremities. This study aimed to delineate the unique clinical, histological, and genetic features of DSH in a Taiwanese population. Methods: A retrospective review of clinical charts and archival photographs was performed for patients diagnosed with DSH in a medical center in Taiwan between 1992 and 2011. Results: A total of 25 patients (mean age at diagnosis 20.3 years) were given the clinical diagnosis of DSH. The male:female ratio was 14:11. Positive family history was noted in 14 patients (56%). The pattern of inheritance was basically autosomal dominant. Twelve patients (48%) had typical hypo- and hyperpigmented macules distributed on the dorsal aspects of the extremities. Six patients (24%) had coexistence of other diseases, particularly seizure, mental retardation, and autism. Mutation analyses were done on 12 patients (48%), with three novel mutations previously identified. Skin biopsy specimens were obtained from seven patients (28%). Six of those had pathological findings consistent with the diagnosis of DSH. Conclusion: With this series, we hope to add to the DSH mutation database and contribute further to the understanding of DSH genotype/phenotype correlations.

UR - http://www.scopus.com/inward/record.url?scp=84875701768&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84875701768&partnerID=8YFLogxK

U2 - 10.1016/j.dsi.2012.08.005

DO - 10.1016/j.dsi.2012.08.005

M3 - Article

AN - SCOPUS:84875701768

VL - 31

SP - 19

EP - 24

JO - Dermatologica Sinica

JF - Dermatologica Sinica

SN - 1027-8117

IS - 1

ER -