This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
April 2021 in “Pediatric Practice and Research” This study examined various hair and scalp diseases in children and found that seborrheic dermatitis, alopecia areata, and telogen effluvium were the most common, with prevalence varying by age and gender.
9 citations
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January 2022 in “Biology” This study concluded that male mice are more susceptible to valproic acid-induced autism spectrum disorder than female mice, with noticeable differences in brain histoarchitecture and receptor protein levels.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” This review discusses the clinical phenotypes of primary mitochondrial cytopathies linked to significant genetic defects in mitochondrial DNA, reporting no new clinical results; the authors emphasize the need for differential diagnosis.
5 citations
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April 2011 in “The Lancet” This case report describes a 60-year-old man with a rare 46, XX karyotype who presented with cerebellar infarct and polycythaemia, leading to further endocrine investigations after adrenal gland enlargement was found.
December 2020 in “TURKDERM” This case report describes a 3-year-old boy diagnosed with temporal triangular alopecia, emphasizing the importance of clinical and dermoscopic examination for correct diagnosis due to the condition's rarity and risk of misdiagnosis.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
3 citations
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January 2012 in “Internal Medicine” In this case study, a 68-year-old woman was diagnosed with central diabetes insipidus and hypothalamic hypopituitarism due to a Rathke's cleft cyst.
May 2026 in “Frontiers in Endocrinology” In a mouse model, this study found that exposure to PM2.5 leads to significant postpartum hair loss, apparent via morphological changes and elevated markers of inflammation, apoptosis, and fibrosis, potentially exacerbated by changes in hormone receptors and stem cell populations.
74 citations
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July 1979 in “Lancet” This case report describes a 10-month-old boy with dermatitis, alopecia, and hypotonia who showed dramatic improvement with oral biotin, suggesting a possible defect in biotin absorption or transport.
1 citations
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November 2024 in “Neuro-Oncology” This case report highlights the rare occurrence of life-threatening aplastic anemia in a 65-year-old woman treated with temozolomide for glioblastoma multiforme, emphasizing the need for more frequent blood monitoring to detect severe bone marrow suppression early.
2 citations
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April 2025 in “Pediatric Dermatology” This study identified and described a new form of alopecia termed "macular alopecia," predominantly affecting young Hispanic/Latinx females, characterized by small macules on the scalp with a high rate (63%) of spontaneous resolution in about five months.
1 citations
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March 2016 in “Neurotoxicity Research” In this study, finasteride pretreatment led to EEG changes in rats that suggest a mild reduction in thioacetamide-induced hepatic encephalopathy.
July 2025 in “Health Sciences” In this case study, researchers described a 7-year-old girl with non-scarring alopecia marked by unique clinical features, likely due to congenital triangular alopecia, and planned a hair follicle transplant to enhance her quality of life.
January 2019 in “Open access journal of mycology & mycological sciences” This article discusses tinea capitis, highlighting its causes, symptoms, diagnostic methods, and the importance of selecting treatment based on the causal agent for effective outcomes; it reports no new clinical results.
13 citations
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June 2006 in “Pituitary” This article reports on a case where a 26-year-old woman with acromegaloidism was found to have X-tetrasomy, suggesting it should be considered in differential diagnoses due to its potential impact on growth-related genes.
24 citations
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July 2009 in “Mycoses” This case report describes an adult patient with tinea capitis due to Microsporum canis who experienced complete hair regrowth following treatment with fluconazole and ketoconazole shampoo.
September 2015 in “Fluids and Barriers of the CNS” This study developed simulated skull models and a method to assess programming tool movements, selecting three models as most clinically relevant for hydrocephalus shunt valve programming.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
12 citations
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August 1988 in “Histopathology” This case report describes a giant pigmented tumor of the scalp in a 47-year-old woman and suggests a possible dual origin involving neural crest differentiation.
12 citations
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August 2011 This paper discusses tinea capitis in adults, emphasizing that it particularly affects postmenopausal African American or Black women, and notes challenges in treatment due to antifungal resistance.
January 2023 in “Pediatric Endocrinology Diabetes and Metabolism” This review discusses current knowledge of isolated premature pubarche in infants and reports no new findings, highlighting it as a mild, self-limiting condition that necessitates exclusion of serious causes.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
1 citations
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November 2021 in “International Journal of Dermatology and Venereology” This paper highlights a case where a 2-year-old boy with temporal triangular alopecia was initially misdiagnosed with alopecia areata, emphasizing the importance of dermoscopy for accurate early diagnosis to avoid unnecessary treatments.
This study suggests that estimating autism likelihood as early as one month after birth may enable more precise early intervention for children with developmental support needs, potentially improving diagnosis, workflows, and reducing service wait times.
March 2026 in “Journal of Investigative Dermatology” This study identified CCCA in 10 children of African descent, highlighting the occurrence of this scarring alopecia in patients under 18 and the importance of early diagnosis for better outcomes.
1 citations
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August 2021 in “NeoReviews” This case report describes a successful outcome for a fetus with a neck mass attributed to unnecessary maternal PTU treatment for transient hyperthyroidism, highlighting the importance of accurate diagnosis and careful management.
27 citations
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June 1989 in “Journal of Medical Genetics” This case report describes four patients with hypertrichosis cubiti and short stature, but could not determine a genetic link between hypertrichosis cubiti and skeletal dysplasia.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.