1 citations
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February 2022 in “Online journal of biological sciences” This article reviews the congenital disorder aphallia, describing its rarity, clinical characteristics, and the normal hormonal and chromosomal profiles of affected individuals, but does not report new research findings.
1 citations
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March 2019 in “KnE life sciences” This case report suggests that human dermal papillae conditioned media may accelerate wound healing in congenital aplasia cutis due to varicella infection.
1 citations
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September 2015 in “Serbian Journal of Dermatology and Venereology/Serbian Journal of Dermatology and Venerology” This paper presents a case of a young male with a family history, showing overlap between ulerythema ophryogenes and keratosis follicularis spinulosa decalvans, affecting both eyebrows and scalp with cicatricial patchy alopecia.
1 citations
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January 2014 in “International Journal of Trichology” This case report describes a 35-year-old woman with diffuse partial woolly hair occurring alongside epidermolysis bullosa with mottled pigmentation.
1 citations
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January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
1 citations
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September 2011 in “Journal of Dermatology” This letter reports a woman with nevoid basal carcinoma syndrome and pronounced androgenic alopecia associated with a novel PTCH gene mutation p.Leu1159fsx32, suggesting a genetic link in this case study.
June 2026 in “International Journal of Homoeopathic Sciences” This review outlines the major forms of alopecia, detailing their clinical presentation and management while linking these insights to recent research advancements in understanding their causes, aiming to enhance therapeutic development for hair loss.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
January 2026 in “Forum Dermatologicum” This study observed that 2.5% of patients with mycosis fungoides or Szary syndrome experienced alopecia, predominantly within skin lesions, with scalp metastases from other cancers also potentially causing hair loss, highlighting the diagnostic value of trichoscopy in differentiating alopecia types.
December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.
November 2025 in “Frontiers in Oral Health” This case study highlights the novel occurrence of a genian fistula with intraoral hair follicle inclusion in a patient without prior facial surgery, emphasizing the need for a comprehensive approach combining clinical, radiologic, and histopathologic analysis for accurate diagnosis and management.
October 2025 in “Pakistan journal of urology.” This supplementary issue of the Pakistan Journal of Urology contains diverse studies spanning organ donation's significance, surgical techniques, and the comparison of treatments in urology, but it doesn't provide specific research results or detailed findings.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
February 2022 in “International journal of research in dermatology” This case series describes seven distinct hair shaft disorders, highlighting the importance of accurate diagnosis since these conditions are often treated incorrectly as alopecias without improvement.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
April 2021 in “Sohag Medical Journal” This review outlines the proposed theories behind the development of alopecia areata, emphasizing the autoimmune process involving lost immune privilege in hair follicles, and stresses the need to pinpoint specific pathogenic mechanisms for potential treatments.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that zebrafish and stickleback fish use similar genetic programs for tooth regeneration, despite differences in their dental structures.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.
October 2018 in “InTech eBooks” This research suggests that mouse mutants and genomics can help study hair biology and epithelial differentiation by focusing on the role of the Foxn1 gene.
July 2018 in “Elsevier eBooks” This chapter details the causes and diagnostic process of pediatric alopecia, including trichoscopic findings, but reports no new clinical results.
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 2012 in “Durham e-Theses (Durham University)” This study found that knock-down of keratin 15 in various cell lines affected cell spreading, morphology, migration, differentiation, and proliferation, suggesting its role in maintaining the stem cell nature of keratinocytes.
January 2009 in “Springer eBooks” The document concludes that treating skin conditions should include psychological care and a multidisciplinary approach is essential for effective management.
April 1906 in “The American Journal of the Medical Sciences” Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
65 citations
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January 2009 in “Pediatric Dermatology” In this retrospective study at a New Delhi children's hospital, the authors found that pediatric skin diseases were most commonly infections and infestations, with bacterial infections and scabies leading, followed by eczemas.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.