19 citations
,
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.
96 citations
,
April 2007 in “Journal of Investigative Dermatology” In this study, co-grafting human keratinocytes with murine dermal papilla-enriched cells produced hair follicle-like structures, but without regular hair formation, suggesting anomalous folliculogenesis.
1 citations
,
November 2016 in “Congenital Anomalies” This review examines the impact of biotin, vitamin B12, and zinc on male reproduction, emphasizing their role in spermatogenic failure, but reports no new clinical results.
53 citations
,
October 2003 in “Developmental Biology” This study in mice found that overexpressing Sonic Hedgehog in basal cells caused skin anomalies and a lack of certain hair fibers, underscoring its key role in hair follicle development.
6 citations
,
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.
44 citations
,
May 1998 in “PubMed” In this study, a specific retinoic acid receptor antagonist caused severe craniofacial anomalies in mouse fetuses when administered early in pregnancy, but not limb anomalies, highlighting developmental stage-specific roles of retinoic acid.
10 citations
,
January 2012 in “Lupus” This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.
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.
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.
57 citations
,
July 2005 in “Genetics” In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.
45 citations
,
April 2018 in “Nature Reviews Urology” This review discusses the molecular mechanisms of masculinization involving androgen signaling and their roles in male embryonic development and conditions like hypospadias and prostate cancer, and reports no clinical results.
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.
10 citations
,
August 2012 in “Current Problems in Pediatric and Adolescent Health Care” This review explores hair signs related to nutrition disorders, such as thin and dyspigmented hair, without presenting new clinical findings; the authors highlight unknowns regarding underlying causes.
6 citations
,
August 1993 in “Archives of Dermatology” This article describes the first documented case of acquired uncombable hair syndrome in a 39-year-old woman, contributing to the understanding of this rare condition.
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.
119 citations
,
November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
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.
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.
February 2010 in “Journal of the American Academy of Dermatology” Lactic acid cream can help improve skin bumps known as eruptive vellus hair cysts.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
44 citations
,
January 2005 in “Dermatology” This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
December 2017 in “Springer eBooks” Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
5 citations
,
November 2011 in “Expert Review of Dermatology” This review discusses the causes, diagnosis, and treatment of pediatric alopecia, emphasizing early diagnosis and considering holistic approaches, but reports no new clinical results.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.
103 citations
,
October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
42 citations
,
September 2000 in “British Journal of Dermatology” This report describes two children with congenital hypotrichosis and found their short hair is due to a shortened anagen phase, with the condition resolving spontaneously during puberty.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report describes a 68-year-old woman with metastatic breast cancer who experienced significant improvement in visual acuity after stopping tamoxifen, which was associated with bilateral optic neuropathies.
20 citations
,
July 2013 in “European Journal of Oral Sciences” This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.