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About 1,130 results

ALLMedicine™ Ectodermal Dysplasia Center

Research & Reviews  432 results

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining...
https://doi.org/10.1016/j.gim.2022.04.022
Genetics in Medicine : Official Journal of the American C... Dufour W, Alawbathani S et. al.

May 19th, 2022 - LEF1 encodes a transcription factor acting downstream of the WNT-β-catenin signaling pathway. It was recently suspected as a candidate for ectodermal dysplasia in 2 individuals carrying 4q35 microdeletions. We report on 12 individuals harboring LE...

Human Oral Mucosal Fibroblasts from Limbal Stem Cell Deficient Patients as an Autologou...
https://doi.org/10.1080/02713683.2022.2071944
Current Eye Research; O'Callaghan AR, Shortt AJ et. al.

May 17th, 2022 - To investigate if human oral mucosal fibroblasts (HOMF) from patients with limbal stem cell deficiency (LSCD) can be used as an autologous feeder layer to support the culture of epithelial cells for potential clinical use. HOMF were isolated from ...

Pediatric Keratosis Pilaris
http://emedicine.medscape.com/article/910223-overview

May 10th, 2022 - Practice Essentials Keratosis pilaris is a very common, benign, heritable disorder of keratinized hair follicles. [1] It is characterized by grouped, horny, keratotic, follicular papules, predominantly located over the extensor surfaces of the pro...

Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63
https://clinicaltrials.gov/ct2/show/NCT02896387

May 3rd, 2022 - Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly, Ectodermal dysplasia, palate Key for cleft lip and palate ...

Klippel-Trenaunay-Weber Syndrome
http://emedicine.medscape.com/article/1084257-overview

Apr 11th, 2022 - Background Klippel-Trenaunay-Weber syndrome (KTWS) is characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity. Note the image below. Klippel-Trenaunay syndrome in a young person. Not...

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Clinicaltrials.gov  11 results

Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63
https://clinicaltrials.gov/ct2/show/NCT02896387

May 3rd, 2022 - Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly, Ectodermal dysplasia, palate Key for cleft lip and palate ...

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia
https://clinicaltrials.gov/ct2/show/NCT02099552

Sep 5th, 2017 - Important to the development and regulatory approval of therapies for XLHED will be the collection of data on the clinical history and prospective health of those affected by XLHED. The proposed natural history study will enroll male and female pa...

Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
https://clinicaltrials.gov/ct2/show/NCT01992289

Sep 5th, 2017 - X-linked hypohidrotic ectodermal dysplasia (XLHED) is a disorder of ectoderm development in which sweat and other secretory gland hypoplasias predispose affected infants to serious and potentially life-threatening hyperthermia and pneumonia. Those...

Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia
https://clinicaltrials.gov/ct2/show/NCT01308333

Jan 8th, 2014 - X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia. Insufficient function of the respective...

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey
https://clinicaltrials.gov/ct2/show/NCT01398813

Jul 9th, 2013 - The full survey is available here: https://www.surveymonkey.com/s/X-CORS For more questions or more details you may contact the Principal Investigator, Carrie Milliard: MILLIC@mmc.org or 207-662-6712

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News  9 results

Micronychia of the Index Finger
https://www.mdedge.com/dermatology/article/242887/hair-nails/micronychia-index-finger
Anil Harishchandra Patki, MD, Paras Choudhary, MD

Jul 14th, 2021 - Congenital onychodysplasia of the index finger (COIF), or Iso-Kikuchi syndrome, is a rare disorder characterized by malformation of one or both nails of the index fingers. The various anomalies described are anonychia, micronychia, polyonychia, ma.

FDA Awards Research Grants for 18 Rare Diseases, Including HPV-Related Oropharyngeal Cancer
https://www.onclive.com/view/fda-awards-research-grants-for-18-rare-diseases-including-hpv-related-oropharyngeal-cancer

Dec 4th, 2020 - Gayatri R. Rao, MD, JD Eighteen new research grants, totaling more than $19 million, have been awarded by the FDA for product development in rare diseases such as HPV-related head and neck cancer and recurrent glioblastoma, the regulatory agency ...

Translucent Periorbital Papules
https://www.mdedge.com/dermatology/article/220202/mixed-topics/translucent-periorbital-papules
Dingyuan Wang, MRCP, Lynne Jamieson, FRCPath et. al.

Apr 3rd, 2020 - The Diagnosis: Apocrine Hidrocystoma Histopathologic examination of one of the papules revealed cystic cavities located within the dermis (Figure 1) lined by a cuboidal epithelium demonstrating decapitation secretion (Figure 2), confirming the dia.

Tease out genetic and structural causes of children’s hair loss
https://www.mdedge.com/pediatrics/article/172106/hair-nails/tease-out-genetic-and-structural-causes-childrens-hair-loss
Heidi Splete

Aug 8th, 2018 - When a child presents with hair loss, don’t rule out issues related to genetics and structural abnormalities of the hair itself, according to Maria Hordinsky, MD, of the University of Minnesota, Minneapolis. The ectodermal dysplasias are a heterog.

Intrauterine therapy showed promise in XLHED
https://www.mdedge.com/familymedicine/article/164211/rare-diseases/intrauterine-therapy-showed-promise-xlhed
Pediatric News; Amy Karon

Apr 25th, 2018 - Intra-amniotic therapy with a novel recombinant protein enabled three patients with X-linked hypohidrotic ectodermal dysplasia (XLHED) to sweat normally, researchers reported. For up to 22 months of postnatal follow-up, patients had no hyperthermi.

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