 Skin Diseases, Genetic
"Skin Diseases, Genetic" 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.
Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.
| Descriptor ID |
D012873
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| MeSH Number(s) |
C16.320.850 C17.800.827
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| Concept/Terms |
Skin Diseases, Genetic- Skin Diseases, Genetic
- Genetic Skin Diseases
- Disease, Genetic Skin
- Diseases, Genetic Skin
- Genetic Skin Disease
- Skin Disease, Genetic
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Below are MeSH descriptors whose meaning is more general than "Skin Diseases, Genetic".
Below are MeSH descriptors whose meaning is more specific than "Skin Diseases, Genetic".
- Skin Diseases, Genetic
- Albinism
- Cutis Laxa
- Darier Disease
- Dermatitis, Atopic
- Dyskeratosis Congenita
- Ectodermal Dysplasia
- Ehlers-Danlos Syndrome
- Epidermolysis Bullosa
- Erythrokeratodermia Variabilis
- Hyalinosis, Systemic
- Ichthyosiform Erythroderma, Congenital
- Ichthyosis Bullosa of Siemens
- Ichthyosis Vulgaris
- Ichthyosis, X-Linked
- Incontinentia Pigmenti
- Keratoderma, Palmoplantar
- Leukokeratosis, Hereditary Mucosal
- Lipoid Proteinosis of Urbach and Wiethe
- Monilethrix
- Netherton Syndrome
- Pemphigus, Benign Familial
- Porokeratosis
- Porphyria, Erythropoietic
- Porphyrias, Hepatic
- Prolidase Deficiency
- Pseudoxanthoma Elasticum
- Rothmund-Thomson Syndrome
- Sjogren-Larsson Syndrome
- Trichothiodystrophy Syndromes
- Xeroderma Pigmentosum
This graph shows the total number of publications written about "Skin Diseases, Genetic" by people in this website by year, and whether "Skin Diseases, Genetic" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 2007 | 0 | 1 | 1 | | 2008 | 1 | 0 | 1 | | 2014 | 0 | 1 | 1 | | 2016 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2020 | 0 | 1 | 1 | | 2025 | 0 | 1 | 1 |
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Below are the most recent publications written about "Skin Diseases, Genetic" by people in Profiles.
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Molteni R, Fiumara M, Campochiaro C, Alfieri R, Pacini G, Licari E, Tomelleri A, Diral E, Varesi A, Weber A, Quaranta P, Albano L, Gaddoni C, Basso-Ricci L, Stefanoni D, Alessandrini L, Degl'Innocenti S, Sanvito F, Bergonzi GM, Annoni A, Panigada M, Cantoni E, Canarutto D, Xie SZ, D'Alessandro A, Di Micco R, Aiuti A, Ciceri F, De Luca G, Dagna L, Matucci-Cerinic M, Merelli I, Cenci S, Scala S, Cavalli G, Naldini L, Ferrari S. Mechanisms of hematopoietic clonal dominance in VEXAS syndrome. Nat Med. 2025 Jun; 31(6):1911-1924.
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Ogawa T, Ishitsuka Y, Nakamura Y, Kubota N, Saito A, Fujisawa Y, Watanabe R, Okiyama N, Suga Y, Roop DR, Fujimoto M. NRF2 Augments Epidermal Antioxidant Defenses and Promotes Atopy. J Immunol. 2020 08 15; 205(4):907-914.
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Al-Haseni AG, Ho JD, Maymone M, Bhawan J, Vashi NA. Generalized Dyschromia and Erythematous Papules in a 66 Year-Old Man: Answer. Am J Dermatopathol. 2019 Jan; 41(1):70.
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Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol. 2017 Dec; 56(12):1406-1413.
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Campbell JP, Ataer-Cansizoglu E, Bolon-Canedo V, Bozkurt A, Erdogmus D, Kalpathy-Cramer J, Patel SN, Reynolds JD, Horowitz J, Hutcheson K, Shapiro M, Repka MX, Ferrone P, Drenser K, Martinez-Castellanos MA, Ostmo S, Jonas K, Chan RV, Chiang MF. Expert Diagnosis of Plus Disease in Retinopathy of Prematurity From Computer-Based Image Analysis. JAMA Ophthalmol. 2016 Jun 01; 134(6):651-7.
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Bilousova G, Roop DR. Induced pluripotent stem cells in dermatology: potentials, advances, and limitations. Cold Spring Harb Perspect Med. 2014 Nov 03; 4(11):a015164.
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Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E. Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. Br J Dermatol. 2014 Dec; 171(6):1521-4.
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Leachman SA, Hickerson RP, Hull PR, Smith FJ, Milstone LM, Lane EB, Bale SJ, Roop DR, McLean WH, Kaspar RL. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. J Dermatol Sci. 2008 Sep; 51(3):151-7.
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Pfendner EG, Bruckner A, Conget P, Mellerio J, Palisson F, Lucky AW. Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. Int J Dermatol. 2007 Aug; 46(8):781-94.
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Geng S, Mezentsev A, Kalachikov S, Raith K, Roop DR, Panteleyev AA. Targeted ablation of Arnt in mouse epidermis results in profound defects in desquamation and epidermal barrier function. J Cell Sci. 2006 Dec 01; 119(Pt 23):4901-12.
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