13 citations
,
July 2004 in “Pediatric dermatology” This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.
23 citations
,
December 2008 in “Pediatric neurology” This study reports two new cases of Gomez-Lopez-Hernandez syndrome and suggests that trigeminal anesthesia and/or partial scalp alopecia may be key criteria for diagnosis.
23 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report describes a 68-year-old woman with metastatic breast cancer who experienced significant improvement in visual acuity after stopping tamoxifen, which was associated with bilateral optic neuropathies.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This paper presents two cases of rare intraorbital ophthalmic artery aneurysms associated with arteriovenous malformations and discusses their clinical presentation, pathogenesis, and management, but reports no new clinical outcomes.
13 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This report describes the clinical and histopathological features of lipoid proteinosis in a brother and sister with lid lesions, highlighting the importance of recognizing such lesions for diagnosis.
11 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” In this case report, the authors suggest an association between prolonged finasteride use and anterior subcapsular cataracts, as observed in a 43-year-old man, marking the first reported instance.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This report documents the second known case of Castleman's disease in the lacrimal gland, diagnosed in an 84-year-old woman through histological examination after excising a left upper lid mass.
7 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report details a 65-year-old woman who developed malignant melanoma in her right eye socket following previous eye trauma, treated by orbital exenteration.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
5 citations
,
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.
5 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This study presents two cases correlating the clinical appearance of adult-onset foveomacular vitelliform dystrophy with optical coherence tomography findings, describing the location of the yellow vitelliform material.
3 citations
,
January 2018 in “BioMed Research International” Achieving perfect facial plastic surgery requires personalized plans, proper patient selection, advanced techniques, and ongoing surgeon education.
1 citations
,
July 2024 in “Indian Journal of Case Reports” This article presents a case study of a 16-year-old male with GAPO syndrome, characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy, who sought dental treatment for missing teeth.
1 citations
,
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.
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.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
November 2007 in “Neuro-chirurgie/Neurochirurgie” This study reported that treatment with cyproterone acetate alone and then with incremental estrogen doses induced mild feminizing effects in late-pubertal trans-girls, with further feminization observed after adding estrogen.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” This report describes a rare case of congenital generalized hypertrichosis terminalis in a six-year-old boy with gingival hyperplasia, a coarse face, congenital hydronephrosis, and a heterozygous deletion on chromosome 17q12.
6 citations
,
January 2013 in “Case reports in endocrinology” This article reviews acromegaloid facial appearance syndrome and presents a case in a 57-year-old woman, emphasizing the need for more cases to understand its clinical features and inheritance patterns.
724 citations
,
April 2004 in “Lancet Oncology” This review summarizes the use and neonatal outcomes of chemotherapy during pregnancy, noting its potential for safe use in the second and third trimesters, and reports no new clinical results.
245 citations
,
January 2018 in “Bone Research” This review discusses the role of TGF-β signaling in stem cell recruitment and tissue regeneration, indicating that abnormalities in TGF-β activation contribute to various major diseases and suggesting avenues for therapeutic intervention.
86 citations
,
October 2017 in “Translational pediatrics” This review discusses how ophthalmic findings can reveal key endocrine disorders and reports no new clinical results, emphasizing the eye's role in diagnosing and managing systemic diseases like diabetes and Graves' ophthalmopathy.
57 citations
,
November 1987 in “Pediatric Dermatology” This article reviews common hair growth abnormalities in children, emphasizing the importance of distinguishing normal development from potential signs of metabolic disorders and indicates no new clinical results.
46 citations
,
December 2003 in “Advances in neonatal care” This article reviews fetal scalp hair formation and related disorders but reports no new research results.
38 citations
,
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.
31 citations
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January 2014 in “Journal of endocrinological investigation” This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.
29 citations
,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
29 citations
,
September 1989 in “Journal of The American Academy of Dermatology” This article describes cases of unusual scalp whorl patterns, including triple parietal and right temporal whorls, that were associated with normal development, and discusses theories of hair whorl development.
25 citations
,
May 2013 in “Journal of mammary gland biology and neoplasia” This review examines the roles of Hedgehog and Gli proteins in mouse embryonic mammary development and suggests that Gli3-repressor-mediated off-state of Hedgehog signaling determines mammary fate over hair follicle fate.
24 citations
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January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This review examines hormonal influences on acne development and available hormonal therapies but reports no new clinical results.