Review
Genetics & Heredity
Marina Cerezo-Cayuelas, Amparo Perez-Silva, Clara Serna-Munoz, Ascension Vicente, Yolanda Martinez-Beneyto, Inmaculada Cabello-Malagon, Antonio Jose Ortiz-Ruiz
Summary: This systematic review aimed to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia. The findings suggest that there is a lack of studies with high scientific evidence to determine the best treatment for these patients.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Immunology
Satoshi Inaba, Yuta Aizawa, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh
Summary: Family history plays a key role in diagnosing inborn errors of immunity (IEI), but determining the disease status in deceased relatives is challenging. Genetic analysis can provide important information for diagnosing IEI in their descendants, especially when analyzing preserved umbilical cord tissues from deceased relatives.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Dentistry, Oral Surgery & Medicine
Marco Montanari, Francesco Grande, Luca Lepidi, Gabriela Piana, Santo Catapano
Summary: This study aimed to evaluate the skeletal growth and success of dental treatment in children with HED using maxillary denture and implant-supported overdenture. The results showed a 100% success rate for implants and prosthetics, and significant mandibular growth after 5 years of prosthetic loading. Only one complication was reported.
CLINICAL IMPLANT DENTISTRY AND RELATED RESEARCH
(2023)
Article
Genetics & Heredity
Sigrun Maier-Wohlfart, Carmen Aicher, Ines Willershausen, Nicolai Peschel, Udo Meissner, Lina Golz, Holm Schneider
Summary: A cohort of 204 children referred to the German Center for Ectodermal Dysplasias, Erlangen between January 2017 and January 2022 were analyzed. The most common reasons for referral were tooth malformations and missing teeth, indicating a possible ectodermal dysplasia. Sweating abnormalities were also observed in many patients. Nail abnormalities were less frequent but still had a significant impact on some individuals. Nail disorders were found in subjects with pathogenic WNT10A or GJB6 variants, as well as in children with mutations in EDAR or EDARADD genes involved in the ectodysplasin A signaling pathway. TP63 variants were regularly associated with nail disorders. A case of anonychia congenita caused by a compound heterozygous variant in the RSPO4 gene was also diagnosed. Overall, nail dysplasia is less common among patients with ectodermal dysplasia than previously thought.
Review
Pediatrics
Michele Callea, Stefano Bignotti, Francesco Semeraro, Francisco Cammarata-Scalisi, Jinia El-Feghaly, Antonino Morabito, Vito Romano, Colin E. Willoughby
Summary: Ectodermal dysplasias (EDs) are a group of inherited developmental disorders that affect tissues of ectodermal origin. The most common form, hypohidrotic ectodermal dysplasia (HED), is characterized by missing teeth, hair loss, and lack of sweat glands. HED can also cause ocular symptoms, such as eyelash loss, dry eye symptoms, and potential complications like corneal ulceration and glaucoma.
Article
Dermatology
Minako Inazawa-Terada, Takeshi Namiki, Chika Omigawa, Tomoko Fujimoto, Takichi Munetsugu, Tsukasa Ugajin, Yutaka Shimomura, Yuichiro Ohshima, Kazue Yoshida, Hironori Niizeki, Ryota Hayashi, Hajime Nakano, Hiroo Yokozeki
Summary: This study provides the first report of a large number of A/HED patients in Japan, clarifying the status of clinical diagnosis and genetic testing of A/HED patients in Japan, as well as the characteristics of their skin symptoms and allergic complications.
JOURNAL OF DERMATOLOGY
(2022)
Article
Immunology
Michael Gernert, Matthias Kiesel, Matthias Froehlich, Regina Renner, Patrick-Pascal Strunz, Jan Portegys, Hans-Peter Tony, Marc Schmalzing, Eva Christina Schwaneck
Summary: Patients with primary immunodeficiencies (PIDs) have a high prevalence of genital HPV infections, with a notable proportion being high-risk HPV types. Most patients are asymptomatic, with rare cases of genital warts and no HPV-associated malignancies.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
William Dufour, Salem Alawbathani, Anne-Sophie Jourdain, Maria Asif, Genevieve Baujat, Christian Becker, Birgit Budde, Lyndon Gallacher, Theodoros Georgomanolis, Jamal Ghoumid, Wolfgang Hoehne, Stanislas Lyonnet, Iman Ali Ba-Saddik, Sylvie Manouvrier-Hanu, Susanne Motameny, Angelika A. Noegel, Lynn Pais, Clemence Vanlerberghe, Prerana Wagle, Susan M. White, Marjolaine Willems, Peter Nuernberg, Fabienne Escande, Florence Petit, Muhammad Sajid Hussain
Summary: This study identifies mono- and biallelic variants in LEF1 as a cause for a novel syndrome characterized by limb malformations and ectodermal dysplasia.
GENETICS IN MEDICINE
(2022)
Article
Pediatrics
Victoria-Eugenia Garcia-Martinez, Ximo Galiana-Valles, Otilia Zomeno-Alcala, Raquel Rodriguez-Lopez, Carmen Llena, Maria del Carmen Martinez-Romero, Encarna Guillen-Navarro
Summary: This article describes an 11-year-old Chinese boy with oligodontia, characterized by conical-shaped teeth as the main phenotype and other mild ectodermal signs. Genetic analysis revealed compound heterozygous pathogenic variants in the WNT10A gene and a homozygous polymorphism in the EDAR gene. The findings suggest that WNT10A mutations are primarily responsible for the dental phenotype, while the EDAR polymorphism may attenuate the severity of other ectodermal signs.
Article
Allergy
Mehdi Ghaini, Mahnaz Jamee, Seyed Alireza Mahdaviani, Mehrnaz Mesdaghi, Shabnam Eskandarzadeh, William Rae, Narges Eslami, Golnaz Eslamian, Mahboubeh Mansouri, Delara Babaei, Javad Enayat, Habib Emami, Shaya Doustkhah, Mohammadreza Hosseini Abajalou, Mahsa Rekabi, Zahra Chavoshzadeh
Summary: This study found that 51 out of 313 IEIs patients (16.3%) had atopic manifestations, with food allergy and atopic dermatitis being the most common. Atopic diseases may contribute to the clinical picture of IEIs, particularly in patients with CID.
INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY
(2021)
Review
Dermatology
Lucinda L. Kohn, Mitchell Braun, Kelly M. Cordoro, Timothy H. McCalmont, Sonal D. Shah, Ilona J. Frieden, Anubhav N. Mathur
Summary: The study characterized the skin and mucosal findings of NEMO syndrome, revealing the additional presence of ichthyosis, palmoplantar keratoderma, and inflammatory skin diseases in male patients. Both male and female patients presented with mucocutaneous ulcers and slow-to-heal chronic wounds.
PEDIATRIC DERMATOLOGY
(2022)
Letter
Dermatology
Alban Ziegler, Frederic Ebstein, Hanan Shamseldin, Clement Prouteau, Elke Krueger, Yousef M. Binamer, Dominique Bonneau, Fowzan S. Alkuraya, Ludovic Martin
Summary: Keratinocyte differentiation factor 1 (KDF1) is associated with hidradenitis suppurativa and ectodermal dysplasia. A new variant of KDF1 (p.His254Tyr) has been found in a 20-year-old male patient with hidradenitis suppurativa and ectodermal dysplasia. The variant actually causes pathogenic gain-of-function of KDF1 through upregulation of IKK alpha.
BRITISH JOURNAL OF DERMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Mariam M. Amin, Hossam M. Elkady
Summary: This study investigated the sensitization to aeroallergens in 132 patients with atopic dermatitis and found that multiple aeroallergens can worsen the severity of the disease.
Review
Clinical Neurology
Felix Javier Jimenez-Jimenez, Hortensia Alonso-Navarro, Elena Garcia-Martin, Jose A. G. Agundez
Summary: Patients with Huntington's disease (HD) and Wilson's disease (WD) often experience sleep complaints. This review focuses on the sleep features in these diseases, as well as other less common causes of chorea associated with sleep disorders, including a new syndrome associated with IgLON5 antibodies.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2023)
Article
Dermatology
Celeste M. Boesjes, Lian F. van der Gang, Daphne S. Bakker, Tess A. ten Cate, Lotte S. Spekhorst, Marlies de Graaf, Marijke R. van Dijk, Marjolein S. de Bruin-Weller
Summary: This study found that dupilumab treatment can lead to a reversible and benign lymphoid reaction that mimics CTCL, but has distinctive histopathologic features.