November 2024 in “Rheumatology Advances in Practice” Rheumatology clinics should always provide preconception counseling for women on DMARDs.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
18 citations
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February 2006 in “Brain & development” This case study reports successful treatment of a 19-year-old with Satoyoshi syndrome using a combination of carbamazepine, methotrexate, prednisolone, and sex-steroids, improving muscle spasms, alopecia, and quality of life.
28 citations
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June 1995 in “The Journal of Dermatology” This study reports that flaky skin mice exhibit skin and nail features that closely resemble human psoriasis vulgaris, suggesting they may serve as a natural model for this condition.
1 citations
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January 1999 in “Dermatology” 9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
In this case report, a 35-year-old woman was diagnosed with Sheehan's syndrome years after severe postpartum hemorrhage, leading to multiple hormonal deficiencies, highlighting delayed diagnosis's impact on treatment and quality of life.
54 citations
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April 2011 in “Journal of Multidisciplinary Healthcare” This study found that African-American and Hispanic patients with systemic lupus erythematosus reported higher levels of unmet psychological needs and may be more prone to depression and anxiety due to SLE-related challenges.
2 citations
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July 2016 in “Pharmacopsychiatry” This case report describes a non-mosaic Turner-Syndrome individual with global cerebral atrophy, significant cognitive impairment, and severe treatment-resistant schizophrenia.
June 2015 in “Annals of the Rheumatic Diseases” This clinical case report describes a 44-year-old male whose initial diagnosis of rheumatoid arthritis progressed over a decade to include systemic lupus erythematosus and Sjögren's Syndrome, highlighting the complexity of managing multiple autoimmune syndromes.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
1 citations
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August 2021 in “Canadian journal of neurological sciences” This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.
2 citations
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October 1982 in “PubMed” This article reports two cases where zinc deficiency caused by excessive bowel resection and parenteral nutrition led to skin lesions that improved rapidly with zinc sulfate supplementation.
142 citations
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August 2015 in “Arthritis & Rheumatology” This study found significant heterogeneity in transcriptome patterns among SSc patients, identifying prominent fibroinflammatory and keratin signatures that may aid in stratifying patients for targeted treatment approaches.
1 citations
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May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
September 2015 in “Philippine Journal of Internal Medicine” This case report describes a 30-year-old female with overlap syndrome involving systemic lupus erythematosus and scleroderma, where individualized treatment significantly reduced her pericardial effusion.
July 2025 in “Journal of Investigative Dermatology” Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” This case report highlights the overlap of Sjögren’s Syndrome and Systemic Lupus Erythematosus, noting major salivary gland enlargement and bilateral facial nerve involvement, which may better explain the patient's symptoms than lupus alone.
20 citations
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September 2019 in “Epidemiology and Psychiatric Sciences” This review discusses post-SSRI sexual dysfunction syndrome and highlights its significant clinical and regulatory implications, but reports no new findings.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
March 2026 in “Oral Presentations” This abstract reports pooled safety data from the WILLOW study for participants with cutaneous lupus erythematosus and systemic lupus erythematosus but does not provide new findings.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.