1 citations
,
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.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This paper presents two cases of rare intraorbital ophthalmic artery aneurysms associated with arteriovenous malformations and discusses their clinical presentation, pathogenesis, and management, but reports no new clinical outcomes.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
32 citations
,
February 2008 in “Developmental dynamics” This study indicates that the Sp6 gene is crucial for the development of skin, teeth, limbs, and lungs in mice, possibly through regulating apoptosis.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular 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.
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.
December 2017 in “Springer eBooks” Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
5 citations
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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.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” The review discusses the diverse roles of WNT10B in mammary gland development, immune function, and its potential implications in cancer and regenerative processes, with no new experimental results.
13 citations
,
July 2012 in “International Journal of Trichology” In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.
7 citations
,
January 2023 in “Frontiers in Cell and Developmental Biology” This review provides a comprehensive overview of apoptosis-related molecules in head development, highlighting caspases' roles and associated abnormalities in tissues like the brain, sensory organs, skin, and bones, without reporting new results.
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.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
55 citations
,
September 2014 in “Development” In this study, mouse sweat gland development relied on a regulatory sequence initiated by Wnt/β-catenin signaling, and disruptions in Wnt, Eda, or Shh pathways led to distinct developmental failures.
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.
69 citations
,
September 1991 in “Journal of Surgical Research” This review highlights the unique scarless wound healing abilities of fetuses and discusses potential applications to adult wound healing, reporting no new experimental findings.
20 citations
,
July 2008 in “Dermatologic Therapy” This review discusses various nonfollicular scalp conditions causing secondary scarring or permanent alopecia and highlights the importance of specific diagnoses and treatments but reports no new results.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
7 citations
,
December 2008 in “Expert Review of Dermatology” This article reviews hair and nail disorders in children, emphasizing their prevalence, congenital and acquired origins, and the diagnostic challenges compared to treatment, but reports no new clinical results.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
September 2020 in “Journal of Health, Medicine and Nursing” This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.
122 citations
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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.
This chapter classifies various benign skin tumors and discusses their characteristics, treatment indications, and potential for recurrence, but reports no new clinical findings.
532 citations
,
August 2011 in “Journal of the American Academy of Dermatology” This article discusses the clinical presentation, histopathologic findings, and pathogenesis hypotheses of vitiligo without reporting new clinical results.
82 citations
,
February 2017 in “Cold Spring Harbor Perspectives in Biology” The TGF-β family helps control how cells change and move, affecting skin, hair, and organ development.
33 citations
,
September 2017 in “Journal of clinical immunology” This review summarizes recent findings on FOXN1's essential role in thymus and skin biology and discusses emerging therapeutic approaches for immune disorders with athymia, but reports no new clinical results.
30 citations
,
May 2005 in “Pediatric dermatology” This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.
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.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This report describes the clinical and histopathological features of lipoid proteinosis in a brother and sister with lid lesions, highlighting the importance of recognizing such lesions for diagnosis.