Reticulate acropigmentation of dohi: A case report with insight into genodermatoses with mottled pigmentation

Mohana, Deepak; Verma, Ujjwala; Amar, Amarkant Jha; Choudhary, Ravish

doi:10.4103/0019-5154.92676

Cited by 13 publications

(8 citation statements)

References 7 publications

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“…[ 14 ] Skin lesions remain localized on extremities in nearly half of the patients and involve face and extremities in the remaining half. [ 15 ] Most cases of DSH are inherited as autosomal dominant, although an autosomal recessive variant of DHS has been reported. [ 16 ] Later, novel mutations in the ADRA1 were reported in Chinese families confirming that this gene is responsible for DSH in the different ethnic group.…”

Section: Discussionmentioning

confidence: 99%

Dyschromias: A series of five interesting cases from India

Namitha

Sacchidanand

2015

Indian J Dermatol

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Dyschromatosis is a pigmentary genodermatosis which presents with hyper and hypopigmented skin lesions giving a mottled appearance. It is a rare entity in India reported mainly in the East Asian population. Classically, two forms have been described; dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria. Here we report four cases of DUH and one case of dyschromatosis symmetrica hereditaria from India.

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Section: Discussionmentioning

confidence: 99%

Dyschromias: A series of five interesting cases from India

Namitha

Sacchidanand

2015

Indian J Dermatol

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“…This disease must be differentiated from other pigmentary disorders such as reticulate acropigmentation of Kitamura, which is marked by presence of atrophy and absence of hypopigmented lesions; Dowling-Degos disease by reticulate hyperpigmentation in the body's folds, accompanied by comedogenic lesions on back and neck, and depressed or pitted scars; initial cases of xeroderma pigmentosum distinguished by the development of more serious symptoms of xerosis, atrophy, telangiectasia, and tumors in photo-exposed areas; dyschromatosis universalis hereditaria with predominating lesions in trunk starting in childhood; vitiligo with repigmentation areas which can simulate hyperchromic macules of DSH but have perifollicular distribution [ 1 , 2 , 6 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

Dyschromatosis Symmetrica Hereditaria of Late Onset?

Gaiewski

Serafini

Werner

et al. 2014

Case Reports in Dermatological Medicine

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Dyschromatosis symmetrica hereditaria (DSH), also known as reticulated acropigmentation of Dohi, is an autosomal dominant disease with high penetrance, characterized by hypo- and hyperpigmented macules of varying sizes on the dorsal of the extremities with reticulated pattern. This paper presents a female patient with typical dermatological lesions, but only diagnosed in adulthood. It is necessary to perform differential diagnosis with other pigmentary disorders. This entity is not very common in South America, and the vast majority of cases were described in Japanese population. Since it is a benign disease, it is important to be aware of this diagnosis in order to establish the correct conduct for these patients.

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“…The deaminase domain, located in the codon from 886 to 1221 bp, represents approximately 27% of the length of the ADAR1 protein, (XuFeng et al, 2009). To date, over 130 unique ADAR1 gene mutations have been detected, with more than 60% of those located within the ADEAMc domain (Bilen et al, 2012;Kantaputra et al, 2012;Kawaguchi et al, 2012;Lai et al, 2012;Luo et al, 2012;Mizrahi et al, 2012;Mohana et al, 2012;Shi et al, 2012), suggesting that the domain is a hot spot for mutations. The ADEAMc domain catalyzes the deamination of adenosine to inosine in double-stranded RNA substrates to subsequently create alterative splicing sites or codon alterations, and thus ultimately leads to functional changes in proteins (Wagner et al, 1989;Rueter et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria

Zhu¹,

Zhu²,

Zhou³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis, characterized by a mixture of hyperpigmented and hypopigmented macules that are mainly present on the dorsal portions of the extremities. The DSH locus was mapped to chromosome 1q11-q12 and, subsequently, pathogenic mutations in the double-stranded RNA-specific adenosine deaminase (ADAR1) gene were identified. We performed a mutational analysis of the ADAR1 gene in a Chinese family that included three individuals affected with typical DSH phenotypes. Mutations within the entire coding region and the exon-intron boundaries of ADAR1 were detected and confirmed by polymerase chain reaction and direct sequencing, respectively. An insertion mutation within exon 12, c.3035_3036insC (p.P1012fsX1017), was identified in all family members affected by DSH, but not in the healthy members or 100 unrelated controls. This finding improves our understanding of the role of ADAR1 in DSH.

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Reticulate acropigmentation of dohi: A case report with insight into genodermatoses with mottled pigmentation

Cited by 13 publications

References 7 publications

Dyschromias: A series of five interesting cases from India

Dyschromias: A series of five interesting cases from India

Dyschromatosis Symmetrica Hereditaria of Late Onset?

A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria

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