November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
September 2021 in “Physiology News” This abstract provides template specifications for design materials but reports no new research findings.
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.
November 2014 in “Elsevier eBooks” This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.
December 1987 in “Pediatric Dermatology” This article describes a previously unreported hair anomaly associated with facio-genito-popliteal syndrome and does not present new clinical results.
August 2023 in “Jurnal Pharmacia Mandala Waluya” This study examined the effects of purified Albizia saponaria bark extract on hair growth in rabbits, finding that a 20% concentration of the extract increased hair weight significantly, though it was less effective than minoxidil.
November 2022 in “Journal of Advances in Pharmacy Practices” This study found that a 5% concentration of terentang stem bark extract was the most effective in promoting hair growth in male rabbits.
This study found that creambath preparations with waru leaf extract accelerated hair growth in New Zealand White rabbits, though none matched the positive control; the 37.5% concentration increased hair weight effectively.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
41 citations
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November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
30 citations
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May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” This review proposes a classification system for childhood hair loss based on clinical appearance, age of onset, and associated symptoms, but reports no new clinical results.
28 citations
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September 1986 in “Pediatric dermatology” In this study, hair anomalies associated with acrodermatitis enteropathica in a young girl improved significantly after two years of zinc therapy.
24 citations
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January 2011 in “International Journal of Trichology” This review highlights the light microscopic features of various infectious and non-infectious hair conditions and reports no new clinical results.
22 citations
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March 1994 in “Journal of Heredity” In this study, researchers identified a mutation in mice that causes hair loss and immune system issues, located on chromosome 18.
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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October 1996 in “Dermatologic clinics” This review outlines the diagnostic criteria for congenital and hereditary hair shaft abnormalities and emphasizes the need to understand the weathering process in assessing these disorders.
3 citations
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January 2017 in “Dermatology online journal” This case report describes the diagnosis of monilethrix in a 2-year-old boy using trichoscopy, highlighting its rarity and the challenge of diagnosing it without a family history.
June 2025 in “British Journal of Dermatology” This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
December 2023 in “University of Southern Denmark Research Portal (University of Southern Denmark)” This case report discusses a 9-year-old boy diagnosed with uncombable hair syndrome, a rare hair shaft anomaly characterized by blond, frizzy, and unruly hair. The diagnosis was prompted by the boy's mother, who suspected the condition after reading a medical paper on hair shaft anomalies. Molecular genetics confirmed the diagnosis. The report highlights the role of digital access in raising awareness of rare conditions among patients and their families.
December 2023 in “University of Southern Denmark Research Portal (University of Southern Denmark)” In this case report, a 9-year-old boy was diagnosed with uncombable hair syndrome following his mother's suspicion and subsequent confirmation via molecular genetics, highlighting how digital access to medical information can raise awareness of rare conditions.
August 2023 in “Dermatology Reports” This case report describes an 18-year-old male whose acne, unresponsive to traditional treatments and only partially improved with oral isotretinoin, was linked to androgen metabolism anomalies indicative of a non-classical form of congenital adrenal hyperplasia.
December 2022 in “Brazilian Journal of Health Review” This review addresses new therapeutic approaches for complete androgen insensitivity syndrome but reports no new clinical results; the authors emphasize the necessity for multidisciplinary strategies and psychological support in treatment.
September 2016 in “Más dermatología” Postpartum hair loss usually stops within 4-6 months.
This report describes a 7-year-old girl with monilethrix who showed significant improvement while on acitretin treatment, but symptoms returned after stopping the medication.
July 1988 in “Archives of Dermatology” This comprehensive book on hair disorders covers various topics, including alopecia and hair replacement techniques, and provides extensive bibliographies but does not report new clinical results.
61 citations
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September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
53 citations
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October 2003 in “Developmental Biology” This study in mice found that overexpressing Sonic Hedgehog in basal cells caused skin anomalies and a lack of certain hair fibers, underscoring its key role in hair follicle development.
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.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.