4 citations
,
August 2018 in “Journal of pediatric neurology” This article reviews Becker's nevus syndrome, covering its symptoms, causes, and cosmetic treatment options, without presenting new clinical findings.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
4 citations
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December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
7 citations
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January 2016 in “Case reports in pediatrics” This study reports that antiandrogen medication, specifically 50 mg/day of spironolactone, showed an adequate clinical response in treating breast hypoplasia associated with Becker's nevus syndrome.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” In this case study, researchers reported a rare instance of trichofolliculoma on the scalp in a 31-year-old male with constriction band syndrome, marking the first known association with amniotic band syndrome.
56 citations
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April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
38 citations
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January 2014 in “International Journal of Endocrinology” This review highlights that children with adrenal disorders may experience neurological and psychiatric symptoms, with potential long-term cognitive and behavioral effects from excess glucocorticoids.
21 citations
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June 2010 in “Anais Brasileiros De Dermatologia” This case report is the first in Brazilian literature to document Becker nevus syndrome, featuring Becker's nevus, ipsilateral breast hypoplasia, and scoliosis in a 14-year-old girl.
20 citations
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
15 citations
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September 2018 in “Medicine” This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.
12 citations
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June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
7 citations
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May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
This reference list, part of a book by Alex Gough, Alison Thomas, and Dan O'Neill, compiles citations from veterinary journals on various canine and feline health issues, but reports no new research findings.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
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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October 2022 in “Frontiers in Oncology” This review discusses surgical approaches and new advancements in sternum reconstruction, emphasizing innovative techniques and materials, but reports no new clinical results.
1 citations
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May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
June 2024 in “Journal of Clinical Medicine” This case study and literature review highlights a chemical burn from hair dye experienced by a 17-year-old girl, resulting in a long-term scalp ulcer. It emphasizes the need for careful consideration of scalp complications and a multidisciplinary treatment approach in hair dye procedures.
This abstract compiles a list of medical syndromes and conditions related to tongue abnormalities and other systemic features but reports no new research findings.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
This review synthesizes existing research on autologous platelet-rich plasma for treating androgenetic alopecia, suggesting its promise with standardized protocols and personalized approaches, but reports no new clinical results.
1 citations
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December 2012 in “Clinical and Experimental Dermatology” This report describes a rare case of tumoral calcinosis presenting as a slow-growing mass on the scalp in an Afro-Caribbean man, with histopathology revealing calcium deposits and associated tissue changes.
1 citations
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May 2025 in “The Journal of Rheumatology” In this case report, researchers described a 48-year-old man with systemic lupus erythematosus who developed a fungus ball (aspergilloma) within a tuberculosis cavity, a complication rarely reported in such patients, emphasizing the role of CT scans in diagnosis and the potential need for surgical intervention.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
48 citations
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January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.