29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
14 citations
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March 2016 in “Mechanisms of Development” This study found that BNC2 is critical for hair follicle regeneration and other developmental processes, as Bnc2−/− mice exhibit incomplete hair follicle development and developmental defects, and BNC1 cannot substitute for BNC2.
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.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
2 citations
,
June 2012 in “American Journal of Dermatopathology” This case study describes a rare cutaneous follicular hybrid cyst intimately associated with syringocystadenoma papilliferum, proposing a potential relationship with the infrainfundibulum based on keratin expression.
7 citations
,
November 2017 in “Cureus” This report introduces a new potential sign, paired ear creases of the helix, which may have relevance to cardiovascular disease similar to diagonal ear lobe creases, in a case of coronary artery disease.
January 2026 in “Indian Journal of Ophthalmology - Case Reports” In this study, a rare case of a trichilemmal cyst in a 6-year-old's upper eyelid was observed; it was identified through histopathological examination after excision, highlighting the importance of considering trichilemmal cysts in atypical pediatric eyelid swellings.
2 citations
,
May 2022 in “International journal of trichology” This article reviews the condition plica neuropathica, including its manifestations, potential causes, and treatment, but it does not provide new clinical findings.
12 citations
,
November 1987 in “Pediatric dermatology” This report identified longitudinal grooves in the hair shafts of four children, diagnosing them with uncombable-hair syndrome.
9 citations
,
January 1989 in “Journal of Small Animal Practice” This study reports an abnormal onion-shaped swelling on the hair shafts of some Abyssinian cats, affecting the appearance of their coat, though skin and hair structures appear normal under the microscope.
34 citations
,
December 1984 in “Journal of Cutaneous Pathology” This study observed that the thinning and structural abnormalities in monilethrix-affected hair occur at the internodes due to possible periodic dysfunction of the hair matrix, particularly in the cortex.
294 citations
,
February 2011 in “Cell” Nephronectin helps attach muscle cells to hair follicles.
13 citations
,
June 2018 in “Dermatopathology” This classification proposal introduces a novel system for categorizing cutaneous adnexal cysts based on their origin in the folliculosebaceous unit and sweat glands, aiming to simplify and enhance understanding of these skin lesions.
February 2025 in “Veterinary Clinical Pathology” In this study, a ferret with multiple health issues was diagnosed with a malignant apocrine gland adenocarcinoma on the prepuce, highlighting the aggressive nature of such tumors in this species and suggesting further investigation into cytologic features could provide insights into tumor behavior.
July 2020 in “Endocrine practice” This case report details a 13-year-old boy with Cushing syndrome, where BIPSS identified the pituitary gland as the cortisol excess source and hormonal tests showed suppressed puberty markers.
May 2016 in “Endocrine Abstracts” Proximal hair cortisol is a reliable tool for diagnosing Cushing's Syndrome.
5 citations
,
April 2024 in “Heliyon” In this study, the researchers found that the chemical composition and color of the brown seaweed *Saccharina latissima* varied significantly depending on the harvesting period, site, and cultivation method, suggesting that environmental conditions play a key role in these variations.
3 citations
,
November 2010 in “The Journal of Dermatology” This case report details a rare instance of a giant cellular blue nevus on the scalp, highlighting its potential to damage underlying bone and hair follicles, alongside a separate alopecia areata lesion successfully treated with topical corticosteroid.
October 2025 in “Journal of the Endocrine Society” This case report describes a 35-year-old woman with a Rathke’s cleft cyst presenting with Cushing disease, highlighting the need to evaluate hormonal hypersecretion in atypical pituitary lesions.
43 citations
,
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.
18 citations
,
February 2001 in “Der Hautarzt” This case study of a 50-year-old woman with myotonic dystrophy and multiple basal cell carcinomas suggests there could be a genetic predisposition for certain cutaneous tumors in such patients.
2 citations
,
August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
2 citations
,
May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
November 2025 in “Frontiers in Endocrinology” This report describes a rare case of ectopic adrenocorticotropic hormone syndrome caused by a pheochromocytoma that unusually co-expresses both ACTH and corticotropin-releasing hormone.
May 2025 in “The Journal of Rheumatology” This case report describes a patient with systemic lupus erythematosus whose unusual nephrological presentation led to a diagnosis of C3 glomerulopathy, highlighting the importance of considering atypical findings to broaden diagnostic approaches.
2 citations
,
September 2021 in “Journal of Pathology of Nepal” This study found that cutaneous cysts most frequently appeared as epidermal cysts, with unusual locations posing diagnostic challenges that required histopathological analysis for definitive diagnosis.
In this case study, researchers reported the first documented instance of malignant transformation of congenital triangular alopecia into basal cell carcinoma in a 48-year-old woman, underscoring the importance of assessing long-standing alopecic areas for malignancy.
September 2024 in “The Journal of Dermatology” In this study, researchers reported a rare case of nevus comedonicus with hair growth in a 26-year-old male, challenging prior reports that affected lesions typically lack the capability to develop terminal hair.
1 citations
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May 2007 in “Chinese Medical Journal” This case report describes a 24-year-old woman with a rare giant cerebriform pigmented nevus on the scalp, which was identified as a giant congenital intradermal nevus based on clinical and pathological findings.
48 citations
,
August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.