7 citations
,
January 2008 in “Indian Journal of Dermatology” This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.
6 citations
,
October 1998 in “PubMed” This case study reports a new variant of chronic dermatophytosis with giant cutaneous horns, suggesting a possible genetic link and highlighting successful treatment with antifungal medications.
5 citations
,
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.
5 citations
,
January 2012 in “International journal of trichology” This case report describes the first known instance of congenital atrichia combined with situs inversus and mesocardia in a 2-year-old male.
4 citations
,
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.
3 citations
,
May 2013 in “Pediatric Dermatology” This case report documents the second known instance of a salivary gland choristoma on the chest wall of a newborn, highlighting its benign nature and the importance of accurate diagnosis.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
2 citations
,
January 2023 in “Journal of Clinical Medicine” This review discusses the links between different types of alopecia and thyroid disorders, highlighting some shared autoimmune factors, but reports no new clinical results.
2 citations
,
February 2007 in “Plastic and Reconstructive Surgery” This review discusses the second edition of "Plastic Surgery" edited by Stephen Mathes, emphasizing its comprehensive nature and influence on the field, but reports no new clinical results.
1 citations
,
January 2023 in “Brazilian Journals Editora eBooks” Children's screen time increased during the pandemic, causing various health issues.
1 citations
,
June 2021 in “Computer methods and programs in biomedicine” This study found that children with cancer showed more deviation from typical facial morphology compared to healthy controls, although the differences were not enough to distinguish patients from controls based on facial asymmetry alone.
1 citations
,
May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study presented two brothers with hereditary acrodermatitis enteropathica who had normal zinc serum levels and experienced skin and hair lesions, but no dental disorders.
1 citations
,
January 2014 In this study, the release rate of Finasteride from Eudragit matrix tablets was found to be significantly influenced by the drug/Eudragit ratio and polymer viscosity, with formulation F9 being the most effective.
1 citations
,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
1 citations
,
September 1981 in “PubMed” This study found that treatment with cyproterone acetate was generally successful for women with virilizing features, showing improved results in younger women and those with adrenal hirsutism, despite some side effects.
March 2026 in “Journal of the mechanical behavior of biomedical materials/Journal of mechanical behavior of biomedical materials” In this study, researchers found that hair fibers exposed to bleaching and UV irradiation displayed significantly more damage, including increased adhesion and surface heterogeneity, compared to untreated hair, highlighting a synergistic degradation pathway affecting the hair cuticle's integrity.
December 2025 in “Current Issues in Molecular Biology” In this systematic review, animal studies showed that cytarabine causes multi-organ toxicities, notably neurotoxicity, linked to oxidative stress and other mechanisms, though study quality raises concerns about reliability and translation to human outcomes.
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.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” This review discusses the clinical phenotypes of primary mitochondrial cytopathies linked to significant genetic defects in mitochondrial DNA, reporting no new clinical results; the authors emphasize the need for differential diagnosis.
This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.
January 2025 in “eScholarship@McGill (McGill)” In this study, loss of the Notch ligand Jag2 in mouse epidermal cells disrupted early differentiation and affected the structure and behavior of adjacent melanocytes, highlighting Jag2's role in epidermal differentiation and tissue homeostasis.
In this case report, researchers documented a 19-year-old male professional athlete with acquired trichorrhexis nodosa, noting environmental factors like chlorine exposure during swimming may have contributed to his condition, which improved after advice on hair care changes.
November 2023 in “International Journal of Trichology” This case report describes a male child with alopecia areata and renal dysgenesis, highlighting a possible coincidental association that may require future genetic investigation.
November 2023 in “Journal of Investigative Dermatology” JAK inhibitors are effective and generally safe for treating alopecia areata, but monitoring for side effects is important.
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.
January 2023 in “Brazilian Journals Editora eBooks” Passiflora incarnata may help with anxiety and sleep issues but has side effects; teleconsultation for heart failure can improve quality of life; increased screen time for children during the pandemic led to more clinical complaints; older and severely affected COVID-19 patients are more likely to have long-term symptoms.
January 2023 in “Brazilian Journals Editora eBooks” Passiflora incarnata may help with anxiety but has risks and drug interactions.
There's a genetic link between Fragile X Syndrome and Autism Spectrum Disorder.
6.7% of urine cultures showed hospital-acquired urinary tract infections.
Children used screens more during COVID-19, causing various health complaints.
Autism Spectrum Disorder is often underdiagnosed in females.
Dissociative disorders in childhood sexual abuse victims are more common in males.
Most pregnant teenagers are not dissatisfied with their body image but worry about weight.
Diagnosing tuberculosis after knee surgery is challenging due to non-specific symptoms.
Post-COVID-19 syndrome is more common in older, severely affected patients.
Psychiatrists should be part of pain management teams due to the psychological aspects of pain.
August 2022 in “Case reports in medicine” This case report describes a 19-year-old female with systemic lupus erythematosus who exhibited eyelash trichomegaly, a rare disorder involving changes in eyelash characteristics, alongside diffuse alopecia.
December 2021 in “Morphologia” This article reviews the characteristics and therapeutic potential of neural crest cells from various sources, including embryonic and mature stem cells, but reports no new experimental results.