7 citations
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October 2020 in “Wiener medizinische Wochenschrift” This paper presents a case study of a 21-year-old male with thyroid hemiagenesis, where the left thyroid lobe and isthmus are absent, and discusses the anomaly's potential clinical consequences based on existing literature.
2 citations
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December 2004 in “Medicine” This review discusses various causes of hair loss, emphasizing the importance of a structured diagnostic approach, and reports no new clinical findings.
This study used a mouse model to reveal that S100A4-positive cells, specifically fibroblasts and immune cells, play a crucial role in nipple development, essential for successful lactation, despite no issues with mammary morphology or milk production.
November 2025 in “Frontiers in Immunology” This review integrates studies on mouse models and human clinical observations to highlight the role of immune cells in skin development and how their dysregulation leads to skin disorders, suggesting potential therapeutic pathways for skin regeneration.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
January 2009 in “Springer eBooks” The document concludes that managing skin conditions during pregnancy is important and requires specialized care.
291 citations
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April 2010 in “Gastroenterology” This study identified Lgr5 and Lgr6 as receptors expressed by small populations of stem cells in various adult organs, with Lgr5+ve cells forming long-lived organoids in certain mouse models.
46 citations
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January 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Insig deficiency in the skin of mice causes cholesterol precursors to accumulate, leading to defective hair development and skin abnormalities, which were alleviated by simvastatin treatment.
18 citations
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January 2008 in “Journal of The American Academy of Dermatology” This study found that the proteins GDNF, NTN, GFRα-1, GFRα-2, and c-Ret are differentially expressed during various stages of the human hair follicle cycle, with potential implications for hair biology.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
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.
January 2025 in “Frontiers in Cell and Developmental Biology” This study explored the molecular mechanisms determining the identity of keratinocytes and corneal epithelial cells, finding that miRNAs from the Gtl2-Dio3 region, which regulate key signaling pathways, play a significant role in cell identity through the Hox/Gtl2-Dio3 miRNA axis.
56 citations
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February 2012 in “Developmental biology” This study found that the absence of Sostdc1 in mice alters mammary gland and hair follicle development, particularly by increasing vibrissae numbers and causing unusual nipple-like structures.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
1 citations
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December 2023 in “Indian Dermatology Online Journal” The authors concluded that steatocystoma multiplex is a rare dermatological condition with poor treatment outcomes, emphasizing the importance of early recognition and psychological support for affected individuals.
1 citations
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May 2007 in “Chinese Medical Journal” This case report describes a 24-year-old woman with a rare giant cerebriform pigmented nevus on the scalp, which was identified as a giant congenital intradermal nevus based on clinical and pathological findings.
June 2025 in “British Journal of Dermatology” This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.
29 citations
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October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.
9 citations
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August 2021 in “Journal of clinical medicine” This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.
6 citations
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July 2019 in “Indian Journal of Dermatology” This study found that tinea capitis was the most common cause of scalp hair loss in children, affecting over half of cases, followed by alopecia areata, seborrheic dermatitis, and other conditions.
3 citations
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August 2018 in “Medical Journal Armed Forces India/MJAFI” In this study, IPL treatment for six months significantly reduced hair growth in females with faun tail nevus linked to spinal abnormalities.
March 2025 in “International Journal of Trichology” In this case report, researchers described a treatment for post-aplasia cutis congenita alopecia using follicular unit transplantation, platelet-rich plasma, and fat grafting, which significantly improved hair follicles, skin quality, and sensitivity in the affected scalp area.
22 citations
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April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
3 citations
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January 2002 in “Actas Dermo-Sifiliográficas” In this case report, a 23-year-old woman developed localized trichorrhexis nodosa after compulsively applying 3% minoxidil to her scalp for two months.
June 2025 in “Preprints.org” This review examines the complex role of the Ectodysplasin-A pathway in skeletal morphogenesis, emphasizing its interaction with other key signaling pathways, and reports no new experimental findings.
51 citations
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August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.
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.
4 citations
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January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
June 2026 in “Frontiers in Cell and Developmental Biology” This review synthesizes the diverse roles of the transcription factor LHX2 in development, tissue maintenance, and injury repair across various organ systems, highlighting its potential therapeutic applications and significance in regenerative medicine, particularly in developmental disorders and tissue regeneration.