April 2025 in “The Journal of Dermatology” This study provides initial insights into the use of JAK inhibitors for CTCL, reporting some cases of symptom improvement, but highlights the need for further research on their association with CTCL development and safety.
5 citations
,
March 2013 in “International journal of surgical pathology” This case report illustrates that a diagnosis of Cronkhite-Canada syndrome can be made without the presence of polyps, as demonstrated by resolving symptoms with steroid treatment.
32 citations
,
April 2019 in “JAAD case reports” This study discusses the immune dysregulation observed in individuals with Down syndrome, highlighting their increased risk for autoimmune skin conditions, but does not yet clarify the molecular mechanisms behind this profile.
January 2022 in “Gastro Hep advances” This case report describes a woman diagnosed with Cronkhite-Canada syndrome whose gastrointestinal symptoms and alopecia improved significantly after systemic prednisone treatment, with no recurrence four years after a second treatment course.
6 citations
,
July 2011 in “British Journal of Dermatology” This paper reports a case of sebaceous carcinoma developing at the site of chronic candidiasis in a patient with keratitis–ichthyosis–deafness syndrome, without presenting new generalizable findings.
January 2016 in “Hair transplant forum international” This article discusses Dr. Jennifer Martinick's experience as a guest speaker at the 20th Annual Meeting of the Japan Society of Clinical Hair Restoration and reports no new findings.
July 2023 in “Nasza Dermatologia Online” More research is needed on CCCA in children, especially Black and Asian adolescents.
7 citations
,
March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
January 2011 in “Junshi yixue” This study established a murine chronic graft-versus-host disease model with scleroderma features, showing typical skin changes and cellular infiltrates associated with the condition.
July 2025 in “Biotechnology and Bioprocess Engineering” This study found that Camellia japonica seed extract promotes hair growth by preventing premature cellular senescence and enhancing the activity of hair follicle stem cells in cases of pattern hair loss.
3 citations
,
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.
2 citations
,
May 2007 in “Pediatrics in Review” This case study reports a teenage boy with juvenile polyposis syndrome, presenting with microcytic anemia, growth failure, and rectal bleeding, leading to the diagnosis following colonoscopy and histologic examination of colonic polyps.
5 citations
,
September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
23 citations
,
August 1983 in “PubMed” This case report details a 17-year-old girl with systemic lupus erythematosus and recurrent infections linked to a complete isolated Clq deficiency.
95 citations
,
September 2019 in “Brain” In this study, two patients with refractory juvenile dermatomyositis improved clinically and in disease activity after receiving the JAK inhibitor tofacitinib, showing potential effects in managing the condition.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
48 citations
,
August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.
9 citations
,
January 2015 in “Medical hypotheses” This report suggests that TCDD may alter human epidermal stem cell populations by upregulating c-Myc, potentially leading to increased stem cell turnover during chloracne development.
1 citations
,
April 2022 in “Global health & medicine” This review explores long COVID symptoms in Japan and discusses potential contributing factors, highlighting persistent SARS-CoV-2 infection's role, but reports no new clinical results; it also considers vaccination as a treatment option.
80 citations
,
March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
11 citations
,
July 2014 in “Clinical Rheumatology” This study found that Chinese female patients with systemic autoimmune diseases treated intravenously with cyclophosphamide were more likely to experience gastrointestinal discomfort, myelosuppression, and alopecia.
March 2023 in “Authorea (Authorea)” This case report describes a 5-year-old Sudanese boy with systemic-onset juvenile idiopathic arthritis who also exhibited unique cutaneous manifestations and peripheral eosinophilia alongside tinea capitis.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” This study found that three genetic loci, including the newly identified JMJD1C, are associated with circulating testosterone and dihydrotestosterone levels, explaining a small portion of their variance in European men.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
November 2025 in “Animals” In this study, hair samples from dogs with chronic degenerative valve disease showed significantly higher concentrations of certain endocrine-disrupting chemicals compared to healthy dogs, suggesting a potential link that warrants further investigation.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
January 1983 in “Journal of the Japan Veterinary Medical Association” This case study of a toy poodle with Cushing syndrome found that after unsuccessful initial treatments, hair growth and symptom alleviation occurred following daily administration of o,p'-DDD, despite initial side effects.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.