Hemorrhagic Darier's Disease

Foresman, P; Goldsmith, Lowell A.; Ginn, Lisa; Beck, Arthur L.

doi:10.1001/archderm.1993.01680250127024

Cited by 23 publications

(10 citation statements)

References 6 publications

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“…Keratotic lesions disposed in a unilateral, linear, zosteriform, or localized pattern, possessing features of dyskeratotic acantholysis, often create a debate about whether Darier's disease or a localized epidermal nevus is present. Other unusual forms, namely cornifying, 94 comedonal, 95 mosaic form, 96 hemorrhagic, 97 “unique variant”, 98 and acral, 99,100 have been described. Some other notable reports have recorded histopathologically confirmed Darier's disease localized to the vulva, 101,102 breast, 103 and cervix 104 in females, one of whom was as young as 5 years of age 101 …”

Section: Clinical Featuresmentioning

confidence: 99%

Darier's (Darier–White) disease/keratosis follicularis

Sehgal¹,

Srivastava²

2004

Int J Dermatology

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Section: Clinical Featuresmentioning

confidence: 99%

Darier's (Darier–White) disease/keratosis follicularis

Sehgal¹,

Srivastava²

2004

Int J Dermatology

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“…In some cases, acantholytic histology has been found in acneiform comedones and epidermoid cysts. A familial haemorrhagic variant is also evident in which red/ black macular and bullous lesions are found in acral sites, especially on the hands, although typical keratoses may be present elsewhere (4,5).…”

Section: Introductionmentioning

confidence: 99%

ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class

Ruiz‐Pérez

Carter

Healy

et al. 1999

Human Molecular Genetics

140

154

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Darier's disease (DD) is an autosomal dominant skin disorder characterized clinically by multiple keratotic papules, and histologically by focal loss of adhesion between epidermal cells (acantholysis) and by abnormal keratinization. Variant forms of cutaneous phenotype, sometimes familial, have been described. Associated neuropsychiatric features, including mental handicap, schizophrenia, bipolar disorder and epilepsy, have also been reported. The cause of DD was shown recently to be mutation in the ATP2A2 gene at 12q24.1, which encodes the sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2). Here, we show that while both common isoforms of SERCA2 are expressed in the cytoplasm of cultured keratinocytes and fibroblasts, in adult skin sections only the longer isoform, SERCA2b, was expressed abundantly in epidermal structures. Extended mutation analysis in European DD patients using single-strand conformation polymorphism and/or direct sequencing identified 40 different patient-specific mutations in 47 families. The majority (23/40) were likely to result in nonsense-mediated RNA decay. The remaining 17 were missense mutations distributed throughout the protein and were associated significantly with atypical clinical features. The clearest association was with the familial haemorrhagic variant where all four families tested had a missense mutation. Three of the families (one Scottish family and two unrelated Italian families) exhibited the same N767S substitution in the M5 transmembrane domain, and a fourth family, from Sweden, had a C268F substitution in the M3 transmembrane domain. Neuropsychiatric features did not appear to be associated with a specific class of mutation and may be an intrinsic, but inconsistent, effect of defective ATP2A2 expression.

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“…Although HDD has been described in only a small number of reports over the subsequent 40 years, a review of over 160 cases of DD suggested that HDD was not an exceptional presentation and that approximately 6% of cases might have haemorrhagic macules 1 . In addition, in some families, HDD may be the predominant skin manifestation in affected individuals 6 …”

Section: Resultsmentioning

confidence: 99%

“…Moreover, all cases of DD, whatever the nature of the clinicopathological manifestations, appear to be due to heterozygous mutations in the ATP2A2 gene 3,4 . One unusual clinical presentation is the acral haemorrhagic variant, haemorrhagic DD (HDD), 5 which has been rarely reported 6–8 . In this report, we describe a Japanese family with HDD.…”

mentioning

confidence: 93%

Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation

et al. 2007

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Darier disease (DD; MIM 124200) is an autosomal dominant disorder that usually presents in teenagers or adults with multiple keratotic papules or plaques in seborrhoeic areas, although considerable clinical diversity may exist. 1 Nevertheless, skin biopsy typically shows suprabasal acantholysis of the epidermis with overlying dyskeratotic cells, and transmission electron microscopy reveals loss of desmosomal attachments and perinuclear aggregates of keratin intermediate filaments. 2 Moreover, all cases of DD, whatever the nature of the clinicopathological manifestations, appear to be due to heterozygous mutations in the ATP2A2 gene. 3,4 One unusual clinical presentation is the acral haemorrhagic variant, haemorrhagic DD (HDD), 5 which has been rarely reported. [6][7][8] In this report, we describe a Japanese family with HDD. This pedigree is of interest because of the difficulties in making a clinical diagnosis and also the nature of the underlying ATP2A2 mutation which has implications for genotype-phenotype correlation in this genodermatosis.

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Hemorrhagic Darier's Disease

Cited by 23 publications

References 6 publications

Darier's (Darier–White) disease/keratosis follicularis

Darier's (Darier–White) disease/keratosis follicularis

ATP2A2 Mutations in Darier's Disease: Variant Cutaneous Phenotypes Are Associated with Missense Mutations, But Neuropsychiatry Features Are Independent of Mutation Class

Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation

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