11 citations
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March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
4 citations
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July 2014 in “International Journal of Dermatology” This case report describes the occurrence of eruptive vellus hair cysts in twin patients, adding to the literature on this dermatological condition.
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.
October 2025 in “Folia Morphologica” This study found that lymph vessel morphology and density in airways differed based on location and type of epithelium, with the highest density in the ciliated epithelium of the nasal passages and site-specific patterns apparent in both fetal and adult specimens.
October 2021 in “Dermatology practical & conceptual” A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
February 2004 in “The New England Journal of Medicine” The book is a comprehensive resource on hair disorders, but lacks information on some conditions.
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.
3 citations
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January 2023 in “Physiological Research” This review suggests that mesenchymal stem cells' therapeutic effects might be due to bioactive substances they release, rather than the cells themselves, highlighting the potential of the MSC secretome as a novel, cell-free therapeutic approach.
March 2016 in “Journal of the European Academy of Dermatology and Venereology” The April 2016 JEADV issue covered various dermatology topics, including psoriasis, psoriatic arthritis, mTOR inhibitors, autoimmune diseases, photodynamic therapy, viral DNA in skin diseases, chronic hand eczema, and female hair loss.
1 citations
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May 2023 in “Journal of molecular evolution” This study explored the molecular biology of skin adaptations in pangolins, revealing that certain genes for lipid synthesis have inactive patterns, while others related to skin function remain intact, suggesting complex evolutionary changes in their skin physiology.
December 2025 in “Biology Bulletin” In this study, researchers examined the skin of Baikal seals, identifying two main skin pathologies potentially linked to global warming and an unknown viral pathogen, suggesting immune inflammatory processes associated with environmental changes may be affecting these seals.
January 2025 in “Зоологический журнал / Russian Journal of Zoology” This study investigated the skin of 12 Baikal seals and identified two main skin pathologies potentially linked to global warming and changes in Lake Baikal's ice regime, including koilocytosis and inflammation associated with a possible viral pathogen.
In this case report, the researchers highlight a possible association between myotonic dystrophy type 1 and multiple tongue hemangiomas, and emphasize that patients with this condition can experience exacerbated respiratory muscle weakness and risk of respiratory failure even with epidural anesthesia.
December 2010 in “Cancer Prevention Research” This study provides evidence supporting the feasibility of presurgical, window-of-opportunity models to evaluate the preventive potential of candidate agents in cancer, using cases from breast, prostate, and colorectal settings.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
3 citations
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January 2017 in “Dermatology online journal” This case report describes the diagnosis of monilethrix in a 2-year-old boy using trichoscopy, highlighting its rarity and the challenge of diagnosing it without a family history.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.
110 citations
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February 2024 in “Journal of Chemical Information and Modeling” This study describes the PandaOmics platform, which uses AI and bioinformatics to identify new therapeutic targets and biomarkers for various diseases, demonstrating validation in laboratory and animal studies.
2 citations
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July 2021 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This review discusses hair shaft disorders, noting the lack of specific treatments and recommending general care practices to prevent hair damage, with some improvement possible during puberty or with treatments like minoxidil.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
June 2024 in “British Journal of Dermatology” In this case study, a 46-year-old post-transplant woman with poorly controlled diabetes exhibited a rare acquired form of epidermodysplasia verruciformis associated with HPV-49, marked by unique histological findings that distinguishing it from trichodysplasia spinulosa.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
December 2022 in “IntechOpen eBooks” This paper discusses forensic DNA phenotyping, emphasizing its ability to infer visible traits from biological samples without reference samples, but notes ethical and legal concerns related to its use.
25 citations
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February 2023 in “Aesthetic Surgery Journal” This review concludes that current clinical and preclinical evidence does not indicate oncologic safety concerns linked to photobiomodulation therapy for skin rejuvenation, including no clear evidence of increased cancer risk.
15 citations
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July 2022 in “Biomedicines” This study found that bioengineered skin substitutes developed for 21 or 28 days effectively mimic native skin's ability to absorb UV radiation, suggesting suitability for treating severe skin defects.
3 citations
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June 2021 in “Clinical, Cosmetic and Investigational Dermatology” This study highlights the importance of dermoscopic examinations in accurately diagnosing skin cancer, which can be mistaken for benign seborrheic keratosis, emphasizing the need for trained interpretation to avoid missing malignant lesions.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.