Localized Darier disease. Implications for genetic studies

O'Malley, M. P.

doi:10.1001/archderm.133.9.1134

Cited by 33 publications

(49 citation statements)

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“…Autosomal dominant traits sometimes occur in a segmental form that is usually considered to represent a mosaic manifestation of the ordinary phenotype [Paller et al, 1994;O'Malley et al, 1997]. However, recently, another type of segmental manifestation characterized by excessive involvement superimposed on the usual phenotype has been proposed to result from postzygotic loss of the corresponding wild-type allele [Happle, 1996].…”

Section: To the Editormentioning

confidence: 99%

Dominant traits may give rise to paired patches of either excessive or absent involvement

Happle

König

1999

Am. J. Med. Genet.

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Section: To the Editormentioning

confidence: 99%

Dominant traits may give rise to paired patches of either excessive or absent involvement

Happle

König

1999

Am. J. Med. Genet.

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“…Submammär [1] und andere Krankheitsbilder publiziert, die aufgrund der klinischen Präsentation nicht innerhalb der genannten Entitä-ten eingeordnet werden können [3, 5-7, 11, 12, 20, 21, 26, 33, 37-41]. Die Zuordnung zu beschriebenen Dermatosen erfolgt wegen fehlender Informationen über die zugrunde liegenden Gene aufgrund des klinischen Erscheinungsbildes [4] [30]. Hierbei handelt es sich meist um nä-voide Varianten, bei denen die Hautveränderungen dem Verlauf der BlaschkoLinien folgen [35] und die Darier-typische Beteiligung der Hände und Nägel üblicherweise fehlt [4,8,28].…”

Section: Fallberichtunclassified

“…Hierbei handelt es sich meist um nä-voide Varianten, bei denen die Hautveränderungen dem Verlauf der BlaschkoLinien folgen [35] und die Darier-typische Beteiligung der Hände und Nägel üblicherweise fehlt [4,8,28]. Starink u. Woerdeman haben hierfür die Bezeichnung "akantholytischer dyskeratotischer epidermaler Nävus" vorgeschlagen [35], was nicht unwidersprochen blieb [30]. Es wird angenommen, daß diese linearen Formen durch eine postzygotische Mutation während der frü-hen Embryogenese entstehen [30].…”

Section: Fallberichtunclassified

“…Starink u. Woerdeman haben hierfür die Bezeichnung "akantholytischer dyskeratotischer epidermaler Nävus" vorgeschlagen [35], was nicht unwidersprochen blieb [30]. Es wird angenommen, daß diese linearen Formen durch eine postzygotische Mutation während der frü-hen Embryogenese entstehen [30]. Die Analogie zum linearen akanthokeratolytischen (epidermolytischen) Nävus als lokalisiertem Gendefekt einer bullösen ichthyosiformen Erythrodermie Brocq drängt sich auf [29]; allerdings ist ein linearer M. Darier in gewöhnli-cher disseminierter Ausprägung in der nächsten Generation bislang noch nie beschrieben worden, was bei der relativen Häufigkeit des M. Darier bemerkenswert ist.…”

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Intertrigin�se akantholytische Dyskeratose

et al. 1999

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A 69-year-old woman presented with widespread symmetrical papular lesions in submammary and inguinal areas. History revealed that the disease had only been present for a few years. A skin biopsy showed focal suprabasal acantholysis, dyskeratosis up to the horny layer and in part parakeratotic hyperkeratosis. The patient had no further evidence for Darier disease, Hailey-Hailey disease or pemphigus vegetans. In particular, characteristic lesions of Darier disease of hands and nails were absent. We found several reports in the literature describing similar skin lesions in intertriginous and genital areas with histological evidence of acantholytic dyskeratosis under various terms. This report discusses the difference between these cases and the differential diagnoses, in particular Darier disease. We propose to designate cases of intertriginous papulosis with histological proof of acantholytic dyskeratosis but without further evidence of Darier disease as intertriginous acantholytic dyskeratosis.

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“…Manifestation severity and extensiveness are variable, both within and between affected families [8]. Moreover, 2 distinct mosaic segmental phenotypes of Darier disease have been described [9,10,11]. Postzygotic mosaicism is characterized by 2 genetically different cell lineages present in an individual, often caused by mutations in early embryogenesis (reviewed in Hall [12 ]and Youssoufian and Pyeritz [13]).…”

Section: Introductionmentioning

confidence: 99%

Mosaicism in Segmental Darier Disease: An In-Depth Molecular Analysis Quantifying Proportions of Mutated Alleles in Various Tissues

Harboe

Willems²,

Jespersgaard

et al. 2011

Dermatology

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Darier disease is an autosomal dominant genodermatosis caused by germline mutations in the ATP2A2 gene. Clinical expression is variable, including rare segmental phenotypes thought to be caused by postzygotic mosaicism. Genetic counseling of segmental Darier patients is complex, as risk of transmitting a nonsegmental phenotype to offspring is of unknown magnitude. We present the first in-depth molecular analysis of a mosaic patient with segmental disease, quantifying proportions of mutated and normal alleles in various tissues. Pyrosequence analysis of DNA from semen, affected and normal skin, peripheral leukocytes and hair revealed an uneven distribution of the mutated allele, from 14% in semen to 37% in affected skin. We suggest a model for segmental manifestation expression where a threshold number of mutated cells is needed for manifestation development. We further recommend molecular analysis of the ATP2A2 gene in semen of male patients with segmental Darier disease to improve genetic counseling.

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Localized Darier disease. Implications for genetic studies

Cited by 33 publications

References 0 publications

Dominant traits may give rise to paired patches of either excessive or absent involvement

Dominant traits may give rise to paired patches of either excessive or absent involvement

Intertrigin�se akantholytische Dyskeratose

Mosaicism in Segmental Darier Disease: An In-Depth Molecular Analysis Quantifying Proportions of Mutated Alleles in Various Tissues

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