9 citations
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January 2012 in “International journal of trichology” This case report suggests that Trichostasis spinulosa should be considered in diagnosing treatment-resistant open comedone-like lesions and that skin surface biopsy might be an effective diagnostic method.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
33 citations
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December 2005 in “British Journal of Clinical Pharmacology” This study found that the Transdermal Delivery System efficiently delivers testosterone systemically and showed bioequivalent hormone concentrations to a known topical gel in healthy males.
16 citations
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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.
29 citations
,
January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
3 citations
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May 2024 in “Cureus” This review revisits hair-thread tourniquet syndrome, highlighting the importance of prompt diagnosis and treatment by removing the constricting hair or similar substance to prevent damage to affected body parts, aiming to raise healthcare professionals' awareness for better prevention and management.
January 2013 in “International Journal of Trichology” This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.
2 citations
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January 2018 in “International Journal of Trichology” This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.
10 citations
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January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
February 2009 in “Journal of The American Academy of Dermatology” Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
November 2013 in “International Journal of Medical and Health Sciences” This review discusses hair tourniquet syndrome, highlighting its potential for delayed diagnosis and the association with maternal telogen effluvium, but reports no new clinical results.
October 2025 in “Indian Journal of Dermatology” This study examined the dermoscopic features of five patients with tuberous sclerosis and found that dermoscopy can differentiate characteristic cutaneous features from similar conditions, potentially aiding in earlier diagnosis when other symptoms are subtle or absent.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
April 2012 in “Informa Healthcare eBooks” Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
1 citations
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April 2020 in “medRxiv (Cold Spring Harbor Laboratory)” This study identified gene sets associated with Tourette Syndrome, implicating Ligand-gated Ion Channel Signaling, Lymphocytic, and Cell Adhesion and Trans-synaptic Signaling processes in the disorder's neurobiology.
April 2024 in “Indian dermatology online journal” This case report describes a 53-year-old woman with a rare presentation of trichostasis spinulosa on her breast and abdomen, featuring itchy, comedo-like lesions. Dermoscopy revealed diagnostic features that may eliminate the need for a biopsy, highlighting the potential for non-invasive diagnosis in such cases.
56 citations
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March 2010 in “Journal of Dermatology” This review provides a synopsis of 53 cases of temporal triangular alopecia, noting its frequent detection in early childhood and potential association with congenital diseases, but it reports no new clinical findings.
23 citations
,
September 2009 in “Child Abuse & Neglect” This case report highlights the importance of considering hair-thread tourniquet syndrome as a potential diagnosis for girls with genital swelling and pain, emphasizing the need for prompt intervention.
11 citations
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January 1989 This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.
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.
13 citations
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July 2012 in “International Journal of Trichology” In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.
35 citations
,
September 2011 in “The Journal of Dermatology” This article discusses the trichoscopic diagnosis of temporal triangular alopecia, but reports no new clinical results.
28 citations
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January 2012 in “Case Reports in Medicine” This article discusses Hair-thread Tourniquet Syndrome in children, emphasizing the need for prompt examination and intervention to prevent severe complications, but reports no new clinical results.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
13 citations
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March 2002 in “Pediatric Dermatology” This article discusses temporal triangular alopecia, emphasizing the need for increased awareness to prevent misdiagnosis and ineffective treatment, but reports no new clinical results.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.