2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
1 citations
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December 2019 in “American journal of ophthalmology. Case reports” This case report describes an unusual occurrence of late-onset nevus comedonicus affecting both eyelids, with complications including bilateral ptosis and ectropion.
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October 2013 This chapter discusses stem cell activity in feather and hair follicles, emphasizing how stem cells maintain their population by cycling between quiescence and activation in specialized niches but reports no new results.
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January 2013 In this study conducted in Ilam province, Iran, researchers found that 19.35% of red foxes and 17.85% of jackals were infested with at least one type of ectoparasite, primarily Ctenocephalides canis.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
June 2026 in “Clinical Case Reports” This case report observed a 5.5-year-old girl with Ectodermal Dysplasia-Syndactyly Syndrome 1, who experienced improved hair density and thickness with topical minoxidil and tretinoin, suggesting a potential adjunctive role for topical retinoids, though confirmation in larger studies is needed.
April 2026 in “International Journal of Agriculture and Food Science” In this case report, a young goat with mixed ectoparasitic infestations including Psoroptes spp. showed significant clinical improvement and resolution of skin lesions after treatment with ivermectin-based therapy and supportive care, illustrating the importance of early diagnosis and comprehensive management for recovery.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
February 2026 in “ACS Biomaterials Science & Engineering” In this study, researchers successfully generated hair follicle organoids using human induced pluripotent stem cells (hiPSCs) with collagen I as a microenvironment, demonstrating potential applications in hair regeneration, though fully human organoids require additional approaches.
February 2026 in “Journal of Cutaneous and Aesthetic Surgery” In this study, a case of a 20-year-old woman revealed ectopic acanthosis nigricans at a post-syndactyly-release surgical site, suggesting this rare condition could result from epidermal–dermal mismatch and altered growth factor signaling in grafted skin, without indicating any metabolic or malignancy concerns.
February 2026 in “Journal of Chittagong Medical College Teachers Association” This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
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.
January 2026 in “Acta Dermato Venereologica” This source reports that four weeks of dupilumab treatment led to notable improvement in skin lesions, including multiple erythematous patches and papules on the face, back, and limbs.
January 2026 in “Buletin Veteriner Udayana” In this study, a female dog with ectoparasite infestation was treated for two weeks using wormectin, diphenhydramine, chlorpheniramine maleate, dexamethasone, and amoxicillin, resulting in improved symptoms such as reduced itching, closure of skin ulcers, and hair regrowth.
November 2025 in “Jurnal Pendidikan Indonesia” In this study at the IPB Taman Kencana campus, researchers found that all examined stray cats were infested with ectoparasites, primarily Ctenocephalides felis fleas, leading to health issues such as anemia and stress.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
November 2025 in “Frontiers in Endocrinology” This report describes a rare case of ectopic adrenocorticotropic hormone syndrome caused by a pheochromocytoma that unusually co-expresses both ACTH and corticotropin-releasing hormone.
July 2025 in “Case Reports in Dermatology” This case report highlights that early signs like pili torti may precede lichen planopilaris in some patients, emphasizing the importance of timely intervention to prevent permanent hair loss.
September 2024 in “Journal of Cosmetic Dermatology” In this study, researchers found that Ectoin, derived from halophilic bacteria, can mitigate stress-related skin damage by reducing cortisone's inhibitory effects on essential skin proteins and decreasing UVB-induced glucocorticoid activity, highlighting its potential as a preventative agent for stress-induced skin issues.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
April 2023 in “Journal of Investigative Dermatology” This study identified ectomesenchyme as a major source of epidermal stem cells in mouse skin, with ectomesenchymal keratinocytes occupying a significant portion of the epidermal stem cell-enriched population.
This research reports that after genotoxic stress from ionizing radiation or chemotherapy, hair follicles can utilize progenitor cells from transit-amplifying compartments, not quiescent stem cells, for repair, suggesting a potential therapeutic approach to prevent therapy-induced hair loss by activating these progenitors.
This study suggests that targeting the activation of transit-amplifying cell-derived progenitor cells may help prevent hair loss from chemotherapy and radiotherapy by promoting hair follicle regeneration.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
June 2021 in “Dermatology Online Journal” This case report documents the first known occurrence of alopecia areata in a patient with ectodermal dysplasia linked to a WNT10A mutation, suggesting potential shared genetic factors in hair loss pathways.
May 2020 in “Authorea (Authorea)” This review discusses the diverse functions and therapeutic potential of ectopic olfactory receptors throughout the body, emphasizing their roles in various cellular processes and potential in cancer detection and therapy, but reports no new clinical results.
April 2020 in “Journal of the Endocrine Society” This case report describes a 34-year-old woman with pituitary stalk interruption syndrome, highlighting the need for long-term follow-up due to potential progression from isolated hormonal deficiencies to pan-hypopituitarism.
April 2020 in “Journal of the Endocrine Society” In this case study, the use of somatostatin analogues was effective in localizing and confirming a neuroendocrine lung tumor as the source of ectopic ACTH syndrome, leading to marked clinical improvement in a patient unable to undergo surgery.