1 citations
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July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.
January 2026 in “Forum Dermatologicum” This case study examined a 72-year-old woman with unique hair shaft constrictions consistent with monilethrix, despite features atypical for this condition, ultimately reaching a diagnosis that led to successful improvement using oral minoxidil and reduced hair trauma.
April 2025 in “Otorhinolaryngology Clinics - An International Journal” This case report highlights the critical role of preoperative histopathology in accurately diagnosing and treating ambiguous cutaneous lesions in the ear, nose, and throat area, emphasizing that reliance solely on clinical features can lead to misdiagnosis.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
1 citations
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January 2018 in “Indian dermatology online journal” This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses.
1 citations
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June 2023 in “Medicina” In this study, all 26 patients with epidermolysis bullosa were found to have extensive dental caries, with various dental and oral complications varying by EB type, due in part to inadequate oral care and associated physical limitations.
26 citations
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July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
2 citations
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December 2013 in “Current Oral Health Reports” This review discusses current developments in tooth regenerative therapy, including bioengineered tooth replacements, and emphasizes its potential to fully restore tooth function, but it presents no new clinical results.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
December 2022 in “Journal of medical sciences and health” This study found that histomorphological evaluation of nail punch biopsies is useful for diagnosing various nail-related dermatoses, with psoriasis being the most common condition observed.
January 1989 in “Clinical and Experimental Dermatology” This symposium abstract reports no new experimental results and discusses the pathophysiology of hair growth as presented at an event organized by the Institute of Dermatology.
68 citations
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December 1991 in “Annals of the New York Academy of Sciences” Hair growth can be induced by certain cells found at the base of hair follicles, and these cells may also influence hair development and regeneration.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
1 citations
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January 2020 in “Skin appendage disorders” This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.
This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
This abstract compiles a list of medical syndromes and conditions related to tongue abnormalities and other systemic features but reports no new research findings.
16 citations
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March 2021 in “EvoDevo” This study found that zebrafish and sticklebacks, despite differences in their tooth regeneration structures, share a similar genetic program during tooth regeneration, suggesting a conserved "successional dental epithelium" in vertebrates.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” This case study presents an 81-year-old woman diagnosed with Cronkhite-Canada syndrome and discusses the importance of recognizing its clinical and histopathological features for timely and accurate diagnosis.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
88 citations
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December 2003 in “Journal of Biological Chemistry” This study identified epiprofin as a highly tissue-specific nuclear protein that promotes cell proliferation, mainly expressed in the developing teeth, hair follicles, and limbs of embryonic mice.
January 2026 in “Clinical Case Reports” This case report describes a 6-year-old girl diagnosed with the rare concurrence of monilethrix and trichorrhexis nodosa, characterized by sparse, brittle hair, who showed minimal clinical improvement with low-dose oral and topical minoxidil treatment.