18 citations
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August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
January 2025 in “Dermatology Practical & Conceptual” Perinevoid alopecia can be effectively treated with non-invasive corticosteroids.
July 2023 in “Nasza Dermatologia Online” More research is needed on CCCA in children, especially Black and Asian adolescents.
8 citations
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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” This study observed unique ultrastructural changes in a 4-year-old girl with pili trianguli et canaliculi that may affect hair shaft surface characteristics due to inner root sheath alterations.
4 citations
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May 2015 in “Indian Journal of Dermatology, Venereology and Leprology” Congenital triangular alopecia can occur outside the typical fronto-temporal region.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
2 citations
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March 2023 in “Journal of Nepal Medical Association” This study found that 40.42% of undergraduate medical students aged under 25 had early canities, with grade I being the most common.
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.
62 citations
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March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
1 citations
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September 2023 in “Genes” This study found no significant difference in CUX1 core promoter methylation levels between different lambskin patterns in Hu sheep, suggesting other mechanisms influence CUX1 expression related to hair follicle development.
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.
23 citations
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January 1986 This review discusses the chemical stability of protein envelopes found in the epidermis and other stratified squamous epithelia, but reports no new clinical results.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that overexpression of β-catenin in bipotent Schwann-cell precursors promotes melanocyte development in limb areas by inducing MITF and repressing FoxD3, especially during a specific developmental timeframe.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
5 citations
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April 2019 in “Veterinary Dermatology” In this case series, cats infested with Lynxacarus radovskyi developed self-induced alopecia similar to flea allergic dermatitis, primarily affecting the perianal area.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that skin pigmentation alterations in a mouse model of Carney complex may be caused by specific dermal fibroblasts promoting melanogenic signaling.
2 citations
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October 2021 in “Clinical and experimental dermatology” In this study, Cyperus rotundus essential oil was found to have significantly better depigmenting effects than hydroquinone for treating axillary hyperpigmentation, with additional benefits in reducing inflammation and hair growth, making it a cost-effective and safe treatment option.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study emphasizes the genetic component of central centrifugal cicatricial alopecia, highlighting an atypical case involving an adolescent male within an African-American family.
January 2018 in “Springer eBooks” Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
1 citations
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June 2016 in “Medicina” This article reviews monilethrix, a rare genetic hair disorder causing brittle hair and alopecia, and emphasizes the need for clinical diagnosis and characteristic tricoscopic findings.
11 citations
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January 1981 in “Cells Tissues Organs” This article describes the structure and components of hair cuticle cells and their intercellular junctions but reports no new clinical results.
January 2017 in “Enlighten: Publications (The University of Glasgow)” This study found that in mice with deregulated β-catenin and PTEN signaling, increased follicular hyperplasia and sebaceous gland changes occur, but typical papillomas do not develop, potentially due to p21 response and reduced stem cell markers.
April 2021 in “Sri Lanka Journal of Diabetes Endocrinology and Metabolism” This study reports a case of Cushing disease caused by a rare giant pituitary macroadenoma in a 41-year-old woman, requiring additional treatment after unsuccessful surgery.
23 citations
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January 2016 in “Brazilian Journal of Psychiatry” This study observed that drug-naïve first-episode psychosis patients had higher hair cortisol concentrations than healthy controls, and these concentrations correlated with the severity of psychopathology.
1 citations
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January 2013 in “Journal of the Scientific Society” In this case report, an 18-year-old male's cheek lump initially diagnosed as a sebaceous cyst was found to be a pilomatrixoma after surgical excision and histopathological examination.
21 citations
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October 1980 in “Gastroenterology” This report is the first to associate Cronkhite-Canada syndrome with multiple myeloma, describing regenerative pseudopolyps in a 58-year-old woman rather than true adenomatous polyps.
June 2025 in “Judi Clinical Journal” In this case report, researchers described an exceptionally rare occurrence of a 19-year-old female having three concurrent pilonidal sinuses at intermammary, umbilical, and sacrococcygeal locations, with surgical and conservative treatment leading to favorable healing outcomes.
August 2023 in “International Journal of Molecular Sciences” This study observed unexpected heterogeneity among pigment cells in human scalp hair follicles, identifying immature melanocyte populations outside traditional pigment production zones, raising questions about their potential roles beyond melanin synthesis.
22 citations
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September 2000 in “Journal of Investigative Dermatology” This study found that mu-crystallin gene expression in mouse skin is highest during the anagen phase of hair development, suggesting its possible role in hair follicle growth.