Dyschromatosis symmetrica hereditaria: report of a sporadic case

Consigli, Javier; Zanni, María Susana Gómez; Ragazzini, Luciana; Danielo, Cristian Ángel

doi:10.1111/j.1365-4632.2010.04472.x

Cited by 9 publications

(17 citation statements)

References 14 publications

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“…In general, the involvement is limited to skin, without systemic involvement or evidence of photosensitivity. However, there are isolated reports of association with neurofibromatosis type I, thalassemia, polydactyly, and torsion dystonia [6]. …”

Section: Discussionmentioning

confidence: 99%

“…Miyamura et al were the first to identify heterozygous mutations of the gene DSRAD or ADAR1, responsible for codifying the double-stranded adenosine deaminase specific RNA, as the cause of DSH [1, 6]. Despite more than 90 different mutations in the DSRAD gene having been described in the literature, it is still uncertain how these changes can cause the same phenotype [7].…”

Section: Discussionmentioning

confidence: 99%

“…Histologically, in hypopigmented areas, the deposit of melanin is scarce, in contrast to the areas of hyperpigmentation that contain melanocytes with an increased metabolic activity and high concentration of melanosomes [6]. The number of melanocytes in the areas of hypopigmentation is diminished compared to individuals without the disease [1].…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Dyschromatosis Symmetrica Hereditaria of Late Onset?

Gaiewski

Serafini

Werner

et al. 2014

Case Reports in Dermatological Medicine

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“…The phenotype resembles DSH [14,18], but differs in affecting the palms and soles, areas with no or low UV burden. Additionally, we excluded mutations in the disease-causing gene ADAR [19,20,21,22,23,24,25,26,27,28], which makes the diagnosis of dyschromatosis hereditaria rather unlikely.…”

Section: Discussionmentioning

confidence: 99%

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

Arnold

Kern²,

Itin³

et al. 2012

Dermatology

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We describe an otherwise healthy 7-year-old boy who developed confetti-like hypopigmented macules on the dorsal aspects of the hands and feet, spreading to the palms and soles a few months after birth. In 1964 Siemens introduced the term acromelanosis albo-punctata to describe the skin features of a patient who has remained the only reported case in the literature so far and who strongly resembles our patient. By genetic testing we excluded mutations in genes known to be involved in diseases with acral hypo- or hyperpigmentation. We review the differential diagnosis of acral localized spotty dyspigmentation and conclude that acromelanosis albo-punctata may represent a distinct entity.

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“…Until now, the exact molecular pathogenesis of DSH has not been clarified. Cutaneous biopsies of the hypo-and hyper-pigmented areas taken from DSH patients have shown a reduction of melanin in the basal layer of the hypopigmented zone, and an increase in the melanin pigment of the hyperpigmented zone at the epidermal level, with a normal number of melanocytes [14]. In the histopathological study, hypopigmented areas reveal a decrease or absence of melanin in the basal layer.…”

Section: B Pomc Expression In Adar1-knockdown Hacat Cellsmentioning

confidence: 99%

Knockdown of Adenosine Deaminase 1 Acting on dsRNA Inhibits Expression of Proopiomelanocortin in HaCaT Cells

Chang¹,

Lu²,

Ding³

2012

IJBBB

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Abstract-In 2003, ADAR1 (Adenosine Deaminase 1 Acting on dsRNA) was identified as the disease gene for an autosomal dominant disease -dyschromatosis symmetrica hereditaria (DSH) -which is characterized by a mixture of hyperpigmented and hypopigmented macules that are distributed on the dorsal aspects of the extremities and freckle-like macules on the face. To date, more than 100 ADAR1 mutations have been discovered in DSH patients. However, the exact molecular pathogenesis of DSH has not been clearly identified. To investigate the effects of ADAR1 mutations on the signal transduction pathway of melanogenesis, we used the RNA interference (RNAi) method to knockdown ADAR1 in human keratinocyte HaCaT cells, and determined a hormone precursor peptide proopiomelanocortin (POMC) expression in the ADAR1-knockdown HaCaT cells. Based on the results, we found that ADAR1 knockdown inhibits POMC expression in HaCaT cells. The findings of the present study imply that ADAR1 plays an important role in regulating POMC expression in keratinocytes, and possibly, the UV-induced pigmentation of skin.

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Dyschromatosis symmetrica hereditaria: report of a sporadic case

Cited by 9 publications

References 14 publications

Dyschromatosis Symmetrica Hereditaria of Late Onset?

Dyschromatosis Symmetrica Hereditaria of Late Onset?

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

Knockdown of Adenosine Deaminase 1 Acting on dsRNA Inhibits Expression of Proopiomelanocortin in HaCaT Cells

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