12 citations
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September 2011 in “BMJ Case Reports” This case report describes a 2-month-old male with biotinidase deficiency whose seizures and skin symptoms improved dramatically with oral biotin supplementation.
26 citations
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November 1993 in “Progress in Neuro-psychopharmacology & Biological Psychiatry” This study reported that prenatal exposure to dihydrotestosterone altered long-term androgen metabolism in juvenile male rats, suggesting different regulatory mechanisms for 5a-reductase in hypothalamic versus pituitary tissues.
198 citations
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June 2013 in “Molecular psychiatry” This study found that schizophrenia-derived neurons exhibited impaired differentiation and mitochondrial dysfunction, suggesting a potential link between these factors and neurodevelopmental processes in schizophrenia.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
3 citations
,
August 2012 in “The American Journal of Dermatopathology” This report describes a 20-year-old Chinese man with a rare combination of congenital compound and blue melanocytic nevus associated with alopecia areata.
18 citations
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January 2013 in “Psychoneuroendocrinology” Neonatal neurosteroid levels affect adult brain function and behavior.
June 2026 in “Clinical Case Reports” This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
5 citations
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May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
April 2023 in “Journal of Investigative Dermatology” This study found that longer disease duration in psoriasis patients was significantly associated with increased incidence of cerebral atrophy, suggesting a potential need for central nervous system screening in these patients.
2 citations
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August 1994 in “Archives of dermatology” This article reports a case of a 19-month-old boy with scalp erythematous papules and hair loss, showing no improvement with initial treatment.
January 2020 in “Przegla̧d dermatologiczny” A 5-year-old boy was diagnosed with congenital triangular alopecia, a type of hair loss without skin changes, usually starting between ages 2-5, with no specific treatment.
10 citations
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May 2017 in “CMAJ. Canadian Medical Association journal” The boy had a fungal scalp infection called kerion, which was cured with oral antifungal medication.
20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
November 2025 in “Journal of Saidu Medical College Swat” In this case report, a 2.5-year-old boy with biotinidase deficiency, initially misdiagnosed due to overlapping symptoms, showed dramatic improvement in several clinical areas after starting biotin supplementation, but persistent sensorineural hearing loss underscored the importance of early diagnosis for preventing irreversible complications.
29 citations
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June 2005 in “Journal of Zoo and Wildlife Medicine” This study concluded that coat damage in captive rhesus macaques is unlikely caused by parasitic, bacterial, or mycotic infections but may be linked to environmental or behavioral factors affecting hair growth.
February 2024 in “Infection and drug resistance” This study presented a case of tinea capitis in a 4-year-old without typical symptoms and traced the infection to Microsporum canis carried by domestic cats, highlighting the need for accurate diagnosis and appropriate treatment, especially in households with pets.
June 2023 in “Journal of Paediatrics and Child Health” This case report describes a child with tinea capitis who experienced complete lesion remission and hair regrowth after early diagnosis and treatment with antifungal medications, highlighting the importance of timely management to prevent complications like scarring and permanent hair loss.
1 citations
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July 2025 in “Journal of Human Immunity” This study found that administering minoxidil and PGE2 to pregnant mice with 22q11.2 deletion syndrome models corrected multiple developmental anomalies, including thymus growth and parathyroid positioning, by targeting prenatal mesenchymal differentiation.
September 1990 in “Journal of Dermatological Science” April 2015 in “Dentistry 3000” This article explores the causes and associated syndromes of premature hair hypopigmentation, emphasizing a need for better understanding to guide individual patient education and treatment.
September 2023 in “Cureus” This case report describes a four-month-old infant with atypical alopecia areata following a cultural head-shaving ritual, who showed improvement with topical triamcinolone treatment, though not full symptom resolution, highlighting the rarity and complexity of managing AA in infants.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” This case report describes a 7-year-old girl who developed radiation-induced alopecia after a neurointerventional procedure, with dermoscopy revealing specific hair and scalp patterns that helped diagnose this rare complication. The findings highlight the importance of dermoscopy in distinguishing RIA from other alopecic disorders in children.
56 citations
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March 2010 in “Journal of Dermatology” This review provides a synopsis of 53 cases of temporal triangular alopecia, noting its frequent detection in early childhood and potential association with congenital diseases, but it reports no new clinical findings.
This case report highlights the effective treatment of tinea capitis with griseofulvin in a young girl, even when previous antifungal treatments were used.
January 2026 in “Cosmoderma” In this clinical case study, a 9-year-old girl was diagnosed with monilethrix, a hereditary hair shaft disorder characterized by weak, beaded hair, with management focusing on minimizing hair trauma.
4 citations
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March 2003 in “International Journal of Dermatology” In this case report, a white man with mental retardation and suspected sensory neural hearing loss experienced resolution of cystic lesions and partial regeneration of facial fat after 1.5 months of pimozide therapy.
March 2023 in “Journal of Cosmetic Dermatology” The researchers in this study described the use of trichoscopy to assist in diagnosing aplasia cutis congenita of the scalp in a dark-skinned newborn, noting that trichoscopic findings can differ from those seen in light-skinned patients, yet remain a valuable diagnostic tool.
August 2016 in “Journal of Investigative Dermatology” This study suggests that differential expression of miRNAs in hair follicles from the frontal and occipital scalp may contribute to the androgen-dependent changes seen in male pattern baldness.
61 citations
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April 1980 in “Journal of the American Academy of Dermatology” This case study describes a young woman with a unique syndrome combining lamellar ichthyosis, neuroectodermal and mesodermal defects, and hair with trichoschisis and low sulfur content.