3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
8 citations
,
March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
37 citations
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March 2010 in “Veterinary dermatology” This study reports a case of bovine besnoitiosis in Germany characterized by specific skin lesions, with diagnosis confirmed through histopathology, serology, and PCR as Besnoitia besnoiti.
September 2013 in “Oncology Times” This article discusses the discontinuation of the Bexxar regimen for non-Hodgkin's lymphoma, noting that despite its effectiveness, it was under-prescribed due to marketing and development challenges without reporting new clinical results.
97 citations
,
January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
3 citations
,
December 1991 in “PubMed” This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.
2 citations
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May 2006 in “Archives of Pathology & Laboratory Medicine” This case report describes a 40-year-old woman with Birt-Hogg-Dubé syndrome diagnosed with multiple chromophobe renal cell carcinomas, highlighting the importance of recognizing associated dermatologic lesions for early intervention.
20 citations
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May 2000 in “Journal of The American Academy of Dermatology” This report suggests that orf infections in Brussels often occur after the Islamic Feast of Sacrifice due to the ritual sheep sacrifice, affecting both men and women handling the animals.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
33 citations
,
May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
24 citations
,
September 2005 in “Journal of Cellular Biochemistry” This study found that all-trans and 9-cis retinoic acids increase steroid sulfatase activity in HL60 cells through mechanisms involving RARα/RXR heterodimers and multiple signaling pathways.
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.
22 citations
,
January 2008 in “Physiological Research” This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.
143 citations
,
May 2002 in “PubMed” This study found that the retinoid LGD1069 suppressed mammary tumorigenesis in a mouse model without observable toxicity, while TTNPB showed modest effects but was associated with significant toxicity.
3 citations
,
July 2025 in “Clinical and Experimental Dermatology” This study reported that patients with alopecia areata treated with ritlecitinib in a real-life setting had a higher rate of positive response on the Severity of Alopecia Tool score compared to those in the ALLEGRO trial.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
November 2024 in “SKIN The Journal of Cutaneous Medicine” This study reports that ritlecitinib was prescribed to a diverse group of patients, including adolescents and adults with and without prior treatment for Alopecia Areata, in the first three months after FDA approval, potentially expanding care options for this condition.
2 citations
,
May 2022 in “International Journal of Trichology” This study identified 43 patients with psoriasiform skin reactions associated with Brazilian Keratin Treatment, suggesting this adverse effect may be underdiagnosed and important to recognize through clinical and dermatoscopic features.
2 citations
,
March 2015 in “Toxicology and Environmental Health Sciences” This study found that rice bran supercritical CO₂ extract was classified as a non-irritant for ocular use but a moderate irritant for dermal use in rabbits and guinea pigs.
1 citations
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February 2009 in “Journal of The American Academy of Dermatology” Children's Serum Sickness-Like Reaction is often linked to antibiotics, especially amoxicillin, and involves symptoms like rash, fever, and joint issues.
October 2024 in “Journal of the Endocrine Society” In this case report, a 40-year-old woman with systemic lupus erythematosus developed Type B Insulin Resistance Syndrome, characterized by severe hyperglycemia despite high insulin doses, requiring immunosuppressive therapy to manage refractory symptoms.
September 2025 in “Journal of Cosmetic Dermatology” In this study, the use of rb‐bFGF in hair transplantation significantly increased follicle survival, reduced hair loss, improved patient satisfaction, and decreased complications compared to controls, in patients with androgenetic alopecia over a 12-month period.
166 citations
,
November 2008 in “Expert Review of Endocrinology & Metabolism” This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.
1 citations
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November 2001 in “Acc Current Journal Review” This review found that 5α‐reductase inhibitors were associated with slightly increased rates of decreased libido, erectile and ejaculatory dysfunction, gynecomastia, and mood disorders compared to placebo, though their long-term effects remain unclear.
November 2024 in “Journal of Investigative Dermatology” 138 citations
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March 2021 in “Journal of the American Academy of Dermatology” This study found that treatment with ritlecitinib or brepocitinib was effective in improving scalp hair loss for patients with alopecia areata over 24 weeks compared to placebo.
5 citations
,
May 2018 in “PloS one” This study demonstrated that both classical and atypical BSE strains from cattle can be transmitted to goats, highlighting the importance of surveillance in protecting public health.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.