Darier's disease and retinitis pigmentosa; is there a pathogenetic relationship?

Itin, Peter; Büchner, S.; Gloor, B.

doi:10.1111/j.1365-2133.1988.tb03235.x

Cited by 14 publications

(13 citation statements)

References 18 publications

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“…Rarely, patients with Darier disease were reported in whom normal autosomal dominant inheritance could not explain the genetic trait. In 1988, we described two brothers with Darier disease and retinitis pigmentosa in which a mutation in the ATP2A2 gene was documented [5, 9]. The parents of these brothers had no signs or symptoms of the disease.…”

Section: Introductionmentioning

confidence: 99%

Segmental Manifestation of Darier Disease

2000

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Darier disease is an autosomal dominant disorder which may occasionally become manifest in a segmental form. Two clinical phenotypes with a different genetic background have been elaborated in recent years. More than 50 patients with isolated linear disease expression have been documented. In this phenotype the skin outside the segmental affection is absolutely normal. Such a phenotype is explained by a postzygotic mutation with somatic mosaicism which was labeled as type 1 manifestation of segmental forms in autosomal skin disorders. A patient with classical type 1 segmental Darier disease is presented. On the other hand, only 3 patients with Darier disease showing a segmental manifestation in combination with a diffuse distribution have so far been observed. These cases correspond to the recently described type 2 manifestation of segmental forms of autosomal dominant disorders. We describe a fourth patient with type 2 segmental Darier disease. The genetic explanation of such a phenotype is possible with the assumption that a germline mutation for the disease exists but, in addition, a postzygotic mutation is needed resulting in loss of heterozygosity. Hence, in a circumscribed region a homozygous or hemizygous state of the mutation is apparent which can explain the enhanced severity of the segmental manifestation.

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Section: Introductionmentioning

confidence: 99%

Segmental Manifestation of Darier Disease

2000

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“…In tw o patients trephine biopsy of the opacities showed epithelial oedema especially of the basal cells and thickened basement membrane -fea tures that are different from the skin pathology because the cornea is not a keratinizing epithelium. Darier's disease in two brothers associ ated with retinitis pigmentosa has also been reported [3]. In view of the high prevalence of ocular involvement in this disease, it may be prudent to refer these patients for an ophthalmological examination before sys temic retinoid therapy is initiated.…”

Section: Darier's Disease and Corneal Opacitymentioning

confidence: 99%

Darier’s Disease and Corneal Opacity

Mohamed¹

1991

Dermatology

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“…To our knowledge none of these ingredients can cause a green discoloration [6], The powdered leaves of C. obovata used by our patient were however found to contain a significant amount of copper, and deposition of copper in the hair is known to produce a green discoloration in blond-haired people. Exposure to copper may result from several sources: occupation as copper w orkers [1,3]. swim ming pool water with copper-based algicides [2,4] or the presence of copper in water supplies due to drawing off the metal from household piping [3].…”

Section: Case Reportmentioning

confidence: 99%

“…Exposure to copper may result from several sources: occupation as copper w orkers [1,3]. swim ming pool water with copper-based algicides [2,4] or the presence of copper in water supplies due to drawing off the metal from household piping [3]. Greening of the hair does not occur after systemic absorp tion of copper [5], Thresholds of concentration beyond which discoloration of the hair appears are not known.…”

Section: Case Reportmentioning

confidence: 99%