April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
26 citations
,
January 1993 in “Dermatology” This report describes a new case of isolated trichothiodystrophy with characteristic brittle hair and suggests a simplified classification scheme for understanding sulfur-deficient hair disorders.
17 citations
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September 2009 in “British Journal of Dermatology” This study suggests that clinically apparent fragile hair in children is rarely linked to trichothiodystrophy, and the tiger-tail pattern is not wholly specific to this diagnosis.
10 citations
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March 1997 in “Pediatric Dermatology” This case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
16 citations
,
January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.
20 citations
,
September 2021 in “Nature communications” In this study, researchers identified a gene expression pre-pattern and implicated the Wnt inhibitor Dickkopf 4 in the formation of color patterns in domestic cat embryos.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
2 citations
,
June 2006 in “Experimental dermatology” This article discusses the development of skin patterns during embryogenesis and postnatal life, linking them to genetic, environmental, and mathematical factors, but presents no new empirical findings.
91 citations
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January 2009 in “International Journal of Trichology” This review discusses the advantages and limitations of various hair loss evaluation methods but reports no new results; it emphasizes the importance of cautious interpretation for these diagnostic tools.
11 citations
,
January 2012 in “Archives of Dermatology” Polarized microscopy is a quick and free method to correctly identify types of hair loss.
137 citations
,
March 2006 in “Cns Drug Reviews” This review explores finasteride's effects on neuroactive steroid levels and their potential influence on disorders like depression and alcohol withdrawal but reports no new clinical findings.
21 citations
,
May 1996 in “Current problems in dermatology” This article reviews various causes and investigative techniques for different forms of alopecia and reports no new findings.
2 citations
,
March 2016 in “Obstetrics and Gynecology Clinics of North America” This article reviews common dermatologic conditions seen in primary care, such as acne and skin cancer, but reports no new findings.
69 citations
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August 2014 in “Journal of The American Academy of Dermatology” This review discusses recent advances in trichoscopy for differentiating types of alopecia and presents a systematic approach for using its diagnostic findings, but reports no new clinical results.
4 citations
,
November 2009 in “Medical Clinics of North America” This article discusses how changes in hair and nails may indicate systemic diseases, but it provides no new results; the authors emphasize their usefulness in clinical diagnosis.
112 citations
,
January 2004 in “The International journal of developmental biology” This study found that feather patterning is primarily self-organizing and dynamic, relying on both genetic and epigenetic controls, with implications for similar processes like fingerprints and pigmentation.
11 citations
,
May 2010 in “Pigment Cell & Melanoma Research” This study reviews the genetic mechanisms behind cat coat patterns, revealing that specific loci determine tabby variations and suggesting these patterns could unravel broader developmental and evolutionary biology insights.
22 citations
,
June 2024 in “Cell” Understanding tissue self-organization can improve treatments for diseases and advance regenerative medicine.
42 citations
,
August 2013 in “International Journal of Women's Health” This review discusses the current therapeutic options for female pattern hair loss and emphasizes the need for managing patient expectations of permanent regrowth, reporting no new clinical results.
2 citations
,
September 2020 in “Schweizer Archiv für Tierheilkunde” This study found that Swiss cattle exhibiting rat-tail syndrome are heterozygous for genetic variants linked to pigmentation and color dilution, likely due to Holstein introgression in the Simmental breed.
March 2026 in “International Journal of Advanced Biochemistry Research” This study investigated the hair of German shepherd dogs, revealing variations in color, shape, and band patterns across different body regions, while all hair types shared similar anatomical structures such as continuous, vacuolated medullas and cuticular scales with smooth or rippled margins.
7 citations
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November 2000 in “Clinics in Dermatology” In this study, pediatric patients with overt polyautoimmunity frequently had systemic lupus erythematosus as an index disease, with clustering patterns revealing familial influence on autoimmune disease aggregation.
January 2019 in “Global Dermatology” This review discusses the genetic disorder, monilethrix, characterized by fragile, brittle hair and its inheritance patterns, and reports no new clinical results.
March 2024 in “Indian Journal of Dermatology/Indian journal of dermatology” In this article, the authors compile various dermatological conditions that metaphorically reference animal-related visuals, such as "buffalo hump" in HIV-associated lipodystrophy or "leonine facies" in lepromatous leprosy, to enhance learning through mnemonic and visual associations.
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.
21 citations
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January 2005 in “Skinmed” This article reviews the structural similarities and common disorders of hair and nails, highlighting their joint involvement in congenital and acquired conditions, but it reports no new clinical results.
January 2007 in “Revista del Centro Dermatológico Pascua” This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.