4 citations
,
August 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report observed that after 6 months of treatment with topical cetirizine and oral vitamin D, hair density and quality improved in three girls with congenital hypotrichosis due to ectodermal dysplasia.
40 citations
,
March 2019 in “Nature Communications” This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
10 citations
,
August 2015 in “Journal of Cosmetic Dermatology” This review examines the role of follicular unit transplantation in restoring eyebrow fullness and architecture but does not present new experimental findings, emphasizing the importance of technique for achieving natural results.
May 2026 in “Frontiers in Pharmacology” In this study, DOP treatment improved hair regrowth in androgenetic alopecia by altering local steroid metabolism and follicular morphology.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
4 citations
,
September 2019 in “Journal of Cosmetic Dermatology” This study found that follicular unit extraction megasession resulted in high patient satisfaction without infections for treating severe androgenetic alopecia, offering a promising one-stage option compared to multi-stage hair transplants.
72 citations
,
September 1997 in “Dermatologic Surgery” This review discusses follicular transplantation for hair restoration, highlighting the importance of evaluating patient suitability and careful planning to achieve excellent cosmetic outcomes, but reports no new research findings.
3 citations
,
July 2013 in “Journal of Cutaneous Pathology” This case report describes a 56-year-old woman whose nonscarring alopecia, consistent with alopecia areata with follicular mucinosis, resolved completely after treatment with oral prednisone.
85 citations
,
August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
19 citations
,
March 1988 in “International Journal of Dermatology” This paper reviews different types of hair shaft dysplasias and does not report any new clinical findings.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
January 2022 in “Revista Dermatológica Centro Uraga” This article reviews two cases of monilethrix in siblings, detailing their clinical and dermatoscopic characteristics, but reports no new findings.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.
3 citations
,
June 1997 in “Veterinary Dermatology” In this study, daily topical minoxidil treatment in neonatal hairless pups led to increased hair growth and the development of hair follicles in the treated areas.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
7 citations
,
September 2006 in “Clinical lymphoma & myeloma” This review discusses various treatment challenges and toxicities in patients with relapsed follicular lymphoma and suggests that novel therapies could improve outcomes by reducing exposure to harmful chemotherapy cycles.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that a shampoo containing a 6-active ingredient complex increased β-Catenin production in human hair follicle dermal papilla cells to levels comparable to Finasteride, suggesting potential for promoting hair growth. It also showed good cleaning efficacy, volume, and shine in a sensorial study.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
78 citations
,
April 1994 in “Archives of dermatology” This study suggests genetic and clinical heterogeneity in keratosis pilaris atrophicans, with variations in inheritance patterns, severity, and response to treatment among 21 individuals observed.
40 citations
,
August 2010 in “Archives of dermatology” This case report describes the youngest known patient with viral-associated trichodysplasia of immunosuppression, where systemic valganciclovir therapy improved facial papule eruptions following cardiac transplantation.
14 citations
,
February 2014 in “Experimental Cell Research” This review examines the role of stem cells and their niches in continuously growing ectodermal organs like teeth, hair, and claws, providing insights from mouse models without presenting new research findings.