"Focal Dermal Hypoplasia" 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.
A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.
| Descriptor ID |
D005489
|
| MeSH Number(s) |
C05.116.099.370.380 C16.131.077.350.424 C16.131.831.350.424 C16.320.322.186 C16.320.850.250.424 C17.800.804.350.424 C17.800.827.250.424
|
| Concept/Terms |
Focal Dermal Hypoplasia- Focal Dermal Hypoplasia
- Dermal Hypoplasias, Focal
- Focal Dermal Hypoplasias
- Hypoplasia, Focal Dermal
- Hypoplasias, Focal Dermal
- Goltz-Gorlin Syndrome
- Syndrome, Goltz-Gorlin
- Goltz Syndrome
- Syndrome, Goltz
- Goltz Gorlin Syndrome
- Gorlin Syndrome, Goltz
- Syndrome, Goltz Gorlin
- Dermal Hypoplasia, Focal
- Goltz's Syndrome
- Goltzs Syndrome
- Syndrome, Goltz's
|
Below are MeSH descriptors whose meaning is more general than "Focal Dermal Hypoplasia".
Below are MeSH descriptors whose meaning is more specific than "Focal Dermal Hypoplasia".
This graph shows the total number of publications written about "Focal Dermal Hypoplasia" by people in this website by year, and whether "Focal Dermal Hypoplasia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1998 | 0 | 1 | 1 |
| 2002 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2014 | 1 | 1 | 2 |
| 2016 | 3 | 0 | 3 |
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Below are the most recent publications written about "Focal Dermal Hypoplasia" by people in Profiles.
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Growth failure in focal dermal hypoplasia. Am J Med Genet A. 2019 04; 179(4):628-633.
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Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients. Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):59-63.
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Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):44-51.
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Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):9-20.
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Gynecologic findings in Goltz syndrome: A case series. Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):64-6.
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Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome). Am J Med Genet C Semin Med Genet. 2016 Mar; 172C(1):29-33.
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A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells. Cell Rep. 2014 Dec 11; 9(5):1770-1780.
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Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. Am J Pathol. 2015 Jan; 185(1):197-213.
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Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One. 2012; 7(3):e32331.
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PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet Test Mol Biomarkers. 2010 Oct; 14(5):709-13.