Darier Disease

"Darier Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.

Descriptor ID	D007644
MeSH Number(s)	C16.320.850.190 C17.800.428.275 C17.800.827.190
Concept/Terms	Darier Disease Darier Disease Disease, Darier Darier's Disease Dariers Disease Disease, Darier's Keratosis Follicularis Darier-White Disease Darier White Disease Darier-White Diseases Disease, Darier-White Diseases, Darier-White Acrokeratosis Verruciformis of Hopf Acrokeratosis Verruciformis of Hopf Hopf Acrokeratosis Verruciformis Hopf Disease Disease, Hopf Diseases, Hopf Hopf Diseases Acrokeratosis Verruciformis Verruciformis, Acrokeratosis Acantholytic Dyskeratotic Epidermal Nevus Acantholytic Dyskeratotic Epidermal Nevus Acantholytic Dyskeratotic Epidermal Nevi

Below are MeSH descriptors whose meaning is more general than "Darier Disease".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Darier Disease [C16.320.850.190]
Skin and Connective Tissue Diseases [C17]
Skin Diseases [C17.800]
Keratosis [C17.800.428]
Darier Disease [C17.800.428.275]
Skin Diseases, Genetic [C17.800.827]
Darier Disease [C17.800.827.190]

Below are MeSH descriptors whose meaning is related to "Darier Disease".

Below are MeSH descriptors whose meaning is more specific than "Darier Disease".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Darier Disease" by people in this website by year, and whether "Darier Disease" was a major or minor topic of these publications.

Bar chart showing 7 publications over 5 distinct years, with a maximum of 3 publications in 2005

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2001	1	0	1
2005	0	3	3
2006	1	0	1
2007	1	0	1
2020	1	0	1

Below are the most recent publications written about "Darier Disease" by people in Profiles.

Sun CW, Grossman SK, Valdes-Rodriguez R, Lee JB, Hsu S. Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease. Dermatol Online J. 2020 Jan 15; 26(1).

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Hamada T, Yasumoto S, Karashima T, Ishii N, Shimada H, Kawano Y, Imayama S, McGrath JA, Hashimoto T. Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol. 2007 Sep; 157(3):605-8.

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M?ller EJ, Caldelari R, Kolly C, Williamson L, Baumann D, Richard G, Jensen P, Girling P, Delprincipe F, Wyder M, Balmer V, Suter MM. Consequences of depleted SERCA2-gated calcium stores in the skin. J Invest Dermatol. 2006 Apr; 126(4):721-31.

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McLean WH, Smith FJ, Cassidy AJ. Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):31-6.

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Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Bj?rck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):21-30.

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Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):3-17.

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Ringpfeil F, Raus A, DiGiovanna JJ, Korge B, Harth W, Mazzanti C, Uitto J, Bale SJ, Richard G. Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol. 2001 Feb; 10(1):19-27.

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Parfitt E, Burge S, Craddock N, Roberts E, McLean WH, Weissenbach J, McGuffin P, Owen M. The gene for Darier's disease maps between D12S78 and D12S79. Hum Mol Genet. 1994 Jan; 3(1):35-8.

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