Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
| Autor: | Andrew H. Jheon, Kenneth M. Huttner, Maya Landan, Ophir D. Klein, Jacob Hogue, Alice F. Goodwin, Wenli Yu, Ramsey Johnson, Dong-Kha Tran, Mary Fete, Tarek Hussein, Miquella G. Chavez, Kyle B. Jones, Kerstin Seidel |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Pathology Ectodermal dysplasia terminal hair Terminal hair SWEAT pilocarpine iontophoresis Surveys and Questionnaires Child Genetics (clinical) ectodysplasin Pediatric Microscopy Microscopy Confocal integumentary system Pilocarpine Anatomy Ectodysplasins Iontophoresis Phenotype medicine.anatomical_structure Anhidrotic Confocal Ectodermal Dysplasia 1 medicine.drug Adult medicine.medical_specialty Adolescent Clinical Sciences Dermatology Biology confocal imaging sweat gland Article Young Adult phototrichogram Sweat gland Genetics medicine X-linked hypohidrotic ectodermal dysplasia Humans Hypohidrotic ectodermal dysplasia Ectodermal Dysplasia 1 Anhidrotic Reproducibility of Results hair medicine.disease Sweat Glands Case-Control Studies Congenital Structural Anomalies Hair |
| Zdroj: | American journal of medical genetics. Part A, vol 161A, iss 7 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.35959 |
| Popis: | Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia (ED), which encompasses a large group of syndromes that share several phenotypic features such as missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. X-linked hypohidrotic ectodermal dysplasia (XL-HED) is associated with mutations in ectodysplasin (EDA1). Hypohidrosis due to hypoplastic sweat glands and thin, sparse hair are phenotypic features that significantly affect the daily lives of XL-HED individuals and therefore require systematic analysis. We sought to determine the quality of life of individuals with XL-HED and to quantify sweat duct and hair phenotypes using confocal imaging, pilocarpine iontophoresis, and phototrichogram analysis. Using these highly sensitive and non-invasive techniques, we demonstrated that 11/12 XL-HED individuals presented with a complete absence of sweat ducts and that none produced sweat. We determined that the thin hair phenotype observed in XL-HED was due to multiple factors, such as fewer terminal hairs with decreased thickness and slower growth rate, as well as fewer follicular units and fewer hairs per unit. The precise characterization of XL-HED phenotypes using sensitive and non-invasive techniques presented in our study will improve upon larger genotype-phenotype studies and in the assessment of future therapies in XL-HED. |
| Databáze: | OpenAIRE |
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