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Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.

Published on Mar 15, 2004in American Journal of Medical Genetics Part A 2.20
· DOI :10.1002/ajmg.a.20519
Ulrike A. Nuber17
Estimated H-index: 17
(MPG: Max Planck Society),
Sigrid Tinschert33
Estimated H-index: 33
(MPG: Max Planck Society)
+ 1 AuthorsIngrid Hauber1
Estimated H-index: 1
(Heidelberg University)
Cite
Abstract
We report a familial case of dyschromatosis universalis hereditaria (DUH) which is compatible with an autosomal dominant inheritance. The male proband from Bangladesh presented with randomly distributed hyper- and hypo-pigmented skin lesions of variable shape and size with a mottled appearance. Three additional members of the non-consangineous family are similarly affected. Light and electron microscopy show normal numbers of active melanocytes, but different amounts of fully melanized melanosomes in hyper-pigmented and hypo-pigmented macules. Our findings indicate that DUH is not a disorder of number. It appears to be a disorder of melanosome synthesis rate or in addition melanocyte activity.
  • References (21)
  • Citations (23)
Cite
References21
Newest
Published on Nov 1, 2002in Pediatric Dermatology 1.18
Khalid Al Hawsawi2
Estimated H-index: 2
,
Khalid Al Aboud2
Estimated H-index: 2
+ 1 AuthorsDaifullah Al Aboud1
Estimated H-index: 1
(King Khalid University)
We describe dyschromatosis universalis in a 19-month-old Saudi Arabian girl. She had no associated defects and none of the other family members were affected. Similar cases reported from countries other than the Far East, where the disease was first described, are discussed.
Published on Oct 1, 2001in Gene 2.64
Richard A. Sturm51
Estimated H-index: 51
(UQ: University of Queensland),
Rohan D. Teasdale47
Estimated H-index: 47
(UQ: University of Queensland),
Neil F. Box23
Estimated H-index: 23
(UQ: University of Queensland)
The synthesis of the visible pigment melanin by the melanocyte cell is the basis of the human pigmentary system, those genes directing the formation, transport and distribution of the specialised melanosome organelle in which melanin accumulates can legitimately be called pigmentation genes. The genes involved in this process have been identified through comparative genomic studies of mouse coat colour mutations and by the molecular characterisation of human hypopigmentary genetic diseases such ...
Published on Feb 1, 2001in Journal of The American Academy of Dermatology 7.10
Kyoung-Ae Jang12
Estimated H-index: 12
(Asan Medical Center),
Jaewoong Choi20
Estimated H-index: 20
(Asan Medical Center)
+ 2 AuthorsJai-Kyoung Koh20
Estimated H-index: 20
(Asan Medical Center)
Abstract Idiopathic eruptive macular pigmentation (IEMP) is a rare disease. IEMP is characterized by asymptomatic, pigmented macules involving the neck, trunk, and proximal extremities. This study describes 10 cases of idiopathic eruptive macular pigmentation seen during a 9-year period at the Asan Medical Center, Seoul, Korea. We present these characteristic consecutive cases to provide more insight into the clinical picture and course of IEMP. Skin lesions of 8 patients were multiple brown mac...
Published on Feb 1, 2001in Annales De Dermatologie Et De Venereologie 0.70
Dhaoui Ma1
Estimated H-index: 1
,
Doss N1
Estimated H-index: 1
Introduction. La dyschromatose universelle est une genodermatose rare. Des anomalies de la melanogenese sont incriminees dans son etiopathogenie. A partir de 2 observations nous discutons les caracteristiques cliniques, etiopathogeniques et certains diagnostics differentiels graves de cette affection. Observation n° 1. Un homme âge de 21 ans consultait pour des lesions evoluant depuis la naissance. Il existait un melange de macules achromiques et hyperchromiques predominant sur les zones photoex...
Published on Jan 1, 2000in Pediatric Dermatology 1.18
Gomathy Sethuraman15
Estimated H-index: 15
,
Devinder Mohan Thappa23
Estimated H-index: 23
+ 2 AuthorsSadagopan Srinivasan1
Estimated H-index: 1
Published on Mar 1, 1999in British Journal of Dermatology 6.71
M. Oyama1
Estimated H-index: 1
,
Hiroshishimizu67
Estimated H-index: 67
(Keio: Keio University)
+ 2 AuthorsTakeji Nishikawa43
Estimated H-index: 43
(Keio: Keio University)
We report a Japanese family with dyschromatosis symmetrica hereditaria (DSH) (MIM 127400 in McKusick's Mendelian Inheritance in Man), a rare autosomal dominant genodermatosis, predominantly occurring among Japanese and Korean individuals. Members of the present family affected with the disease showed a mixture of hyperpigmented and hypopigmented macules distributed on the face and the dorsal aspects of the extremities, which are typical of DSH. As most of the literature on DSH has been written i...
Published on Oct 1, 1998in Annales De Dermatologie Et De Venereologie 0.70
P. Schoenlaub5
Estimated H-index: 5
,
Leroy Jp3
Estimated H-index: 3
+ 2 AuthorsP. Plantin17
Estimated H-index: 17
Introduction. La dyschromatose universelle hereditaire est une leucomelanodermie generalisee, decrite en 1933 au Japon. L'observation familiale rapportee reflete le mode de transmission genetique. L'etude ultrastructurale des lesions cutanees est en faveur d'une anomalie fonctionnelle de la melanogenese. Observation. Une fille sans antecedent particulier, etait hospitalisee a l'âge de 9 ans pour un diabete sucre. Ses parents n'etaient pas consanguins et son pere, diabetique insulino-dependant, e...
Published on Mar 1, 1997in Journal of Dermatology 3.38
Nam Soo Kim4
Estimated H-index: 4
(Ajou University),
Sungbin Im2
Estimated H-index: 2
(Ajou University),
Soo-Chan Kim23
Estimated H-index: 23
(Ajou University)
We report electron microscopic findings from both hyperchromic and achromic macules of dyschromatosis universalis hereditaria (DUH). The keratinocytes of the hyperchromic macules contained numerous, fully melanized melanosomes; almost all of them were aggregated to form the melanosome complex. In contrast, the melanosomes were absent from both keratinocytes and melanocytes of achromic macules, even though intact melanocytes were found. Our results suggest that DUH may be a disorder of melanosome...
Published on Jul 1, 1996in Pediatric Dermatology 1.18
C. Sanz Galdeano1
Estimated H-index: 1
,
C. Léauté-Labrèze30
Estimated H-index: 30
+ 2 AuthorsA. Taieb60
Estimated H-index: 60
We report the occurrence of idiopathic eruptive macular pigmentation in four children and one adolescent. This condition appears to be a distinct clinicopathologic and histologic entity. It is characterized by asymptomatic, pigmented macules involving the neck, trunk, and proximal limbs. All patients or their families denied the patients' having taken any drug before the eruption. In all of the patients the first sign was a pigmented spot without preceding erythematous, papular, or hypopigmented...
Cited By23
Newest
Published on Jun 1, 2018in British Journal of Dermatology 6.71
Taro Masaki11
Estimated H-index: 11
(Kobe University),
Eiji Nakano5
Estimated H-index: 5
(Kobe University)
+ 5 AuthorsChikako Nishigori25
Estimated H-index: 25
(Kobe University)
Ding'an Zhou2
Estimated H-index: 2
(CQMU: Chongqing Medical University),
Zhiyun Wei16
Estimated H-index: 16
(SJTU: Shanghai Jiao Tong University)
+ 16 AuthorsJing Wang1
Estimated H-index: 1
(CQMU: Chongqing Medical University)
p53-Transcriptional-regulated proteins interact with a large number of other signal transduction pathways in the cell, and a number of positive and negative autoregulatory feedback loops act upon the p53 response. P53 directly controls the POMC/α-MSH productions induced by ultraviolet (UV) and is associated with UV-independent pathological pigmentation. When identifying the causative gene of dyschromatosis universalis hereditaria (DUH), we found three mutations encoding amino acid substitutions ...
Published on Jan 1, 2017
Thuy L. Phung17
Estimated H-index: 17
(BCM: Baylor College of Medicine),
Teresa S. Wright (UTHSC: University of Tennessee Health Science Center)+ 1 AuthorsBruce R. Smoller43
Estimated H-index: 43
(UR: University of Rochester)
Human variability is most strikingly defined by variations in skin and hair color. Skin pigmentation is primarily a result of melanocyte functioning. However, surrounding keratinocytes, extracellular matrix proteins and dermal fibroblasts also play a role in cutaneous homeostasis and the phenotypic demonstration of color.
Published on Feb 1, 2016in Piel
Víctor Pinos-León1
Estimated H-index: 1
,
Jennyfer Granizo-Rubio (Central University of Ecuador)
Published on Jan 1, 2016in Chinese Medical Journal 1.55
Jia-Wei Liu1
Estimated H-index: 1
(Peking Union Medical College Hospital),
Asan1
Estimated H-index: 1
+ 4 AuthorsDong-Lai Ma5
Estimated H-index: 5
(Peking Union Medical College Hospital)
Background: The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities. Methods: Three patients initially diagnosed with DUH were included. The gene test was ...
Published on Dec 1, 2015in Clinical and Experimental Dermatology 1.77
A. Cuell1
Estimated H-index: 1
(Boston Children's Hospital),
N. Bansal1
Estimated H-index: 1
(HEFT: Heart of England NHS Foundation Trust)
+ 8 AuthorsC. K. Thind1
Estimated H-index: 1
(Boston Children's Hospital)
Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. It overlaps phenotypically with other dyschromatoses, but can now be distinguished by mutations in the KIT ligand gene (KITLG).We report two unrelated white families with similar phenotypic presentations of FPHH developing in early childhood in several generations.Sanger sequencing of t...
Published on Apr 1, 2015in Case Reports in Dermatology
Salinee Rojhirunsakool1
Estimated H-index: 1
,
Vasanop Vachiramon9
Estimated H-index: 9
Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant inherited dermatosis which usually appears during childhood and is characterized by dyspigmentation, with both hypopigmented and hyperpigmented macules. We report a case of DUH with unexplained childhood-onset renal failure. The association between DUH and renal failure is yet to be proven by further studies.
Published on Mar 1, 2014in Dermatologica Sinica 0.81
Wei-Tai Yu1
Estimated H-index: 1
(KMU: Kaohsiung Medical University),
Yung-Shun Su2
Estimated H-index: 2
(KMU: Kaohsiung Medical University),
Chih-Hung Lee2
Estimated H-index: 2
(KMU: Kaohsiung Medical University)
Abstract Herein we report a rare case of classical Dowling-Degos disease (DDD) in a Taiwanese woman. A 23-year-old Taiwanese woman presented with generalized hyperpigmentation in irregular and reticulated shapes that she had had since junior high school. Her mother and two sisters had also developed similar pigmentations, starting during their teenage years. The patient did not have previous skin lesions or a history of trauma. She did not have any nail or hair abnormalities. Viewed through a mi...
Published on Jan 1, 2014in Acta Dermato-venereologica
Aayush Gupta10
Estimated H-index: 10
,
Yugal K Sharma5
Estimated H-index: 5
+ 3 AuthorsArchana Singh7
Estimated H-index: 7
© 2015 The Authors. doi: 10.2340/00015555-2030 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 The dyschromatoses are a group of rare genodermatoses characterised by the presence of asymptomatic mottled hyperpigmented macules admixed with variably sized hypopigmented macules (1). Dyschromatoses are divided into dyschromatosis symmetrica hereditaria (DSH) and dyschromatosis universalis hereditaria (DUH). DUH is clinically diagnosed on the basis of widely distributed small hy...