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.
February 2010 in “Journal of The American Academy of Dermatology” A woman's nail separation was likely caused by poor blood flow, and a treatment for similar conditions might help.
41 citations
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December 2008 in “Pediatric Dermatology” This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.
61 citations
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September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
7 citations
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September 2011 in “International Journal of Dermatology” This study investigated demographic and clinical characteristics of twenty-nail dystrophy in Korea, identifying differences in subtype and gender predominance between children and adults.
June 2011 in “European Journal of Pediatric Dermatology” This study diagnosed an 11-year-old girl with initial androgenetic alopecia and monilethrix after observing unique hair shaft abnormalities and skin conditions, unlike her affected parents.
29 citations
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February 2019 in “Pediatric dermatology” This abstract suggests that specific trichoscopic features like black dots, coiled hair, and trichoptilosis may help differentiate trichotillomania from patchy alopecia areata.
October 2025 in “Indian Journal of Paediatric Dermatology” In this case report, a 6-year-old boy with Netherton syndrome was diagnosed using trichoscopy, which revealed characteristic hair shaft abnormalities such as bamboo, golf tee, and matchstick hairs.
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.
1 citations
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July 2015 in “Microscopy Research and Technique” In this study, researchers found that patients with Friedreich's ataxia exhibited more pronounced ultra-structural hair alterations compared to carriers, likely due to oxidative stress related to deficient frataxin expression.
12 citations
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January 2023 in “Indian Dermatology Online Journal” This review discusses the diagnostic and therapeutic challenges of hair shaft disorders and suggests diagnostic tools like trichoscopy and light microscopy, but reports no new clinical results.
1 citations
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October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
6 citations
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August 2012 in “The Journal of Pediatrics” This case report describes a 12-year-old girl diagnosed with monilethrix, characterized by fragile, beaded hair shafts, with no effective treatment currently available.
2 citations
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August 2013 in “British Journal of Dermatology” This case report observed a dramatic improvement in a 15-year-old girl's pachyonychia congenita symptoms during chemotherapy for Ewing sarcoma, suggesting chemotherapy's potential role in managing hyperkeratotic conditions.
December 2024 in “Indian Journal of Dermatology” This case report describes a 3-year-old boy with atrichia with papular lesions, emphasizing that dermoscopy, showing the 'cluster of stars' appearance, facilitated diagnosis without needing a skin biopsy.
21 citations
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April 2004 in “Australasian Journal of Dermatology” This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.
18 citations
,
January 1992 in “Dermatology” This case report details atrichia with papular lesions in a 4-year-old girl, highlighting specific histological findings on her scalp and other affected areas.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
January 2011 in “대한피부과학회지” This article reports a case of trichothiodystrophy in a 7-year-old girl with sulfur deficiency in her hair, characterized by sparse, slow-growing hair and distinctive tiger tail banding under microscopy.
January 2026 in “Cosmoderma” In this clinical case study, a 9-year-old girl was diagnosed with monilethrix, a hereditary hair shaft disorder characterized by weak, beaded hair, with management focusing on minimizing hair trauma.
March 2026 in “Scholars Journal of Medical Case Reports” In this study, nail involvement was observed in 42.8% of children with alopecia areata, yet often went unrecognized, indicating that clinical and dermoscopic evaluations can improve detection and provide important prognostic information.
6 citations
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April 2024 in “Health Science Reports” This study found that young patients with severe AA are more prone to nail abnormalities such as pitting and leukonychia, with koilonychia and red spots lunula in more severe cases.
29 citations
,
January 2020 in “Frontiers in endocrinology” This paper considers fibrodysplasia ossificans progressiva as a segmental progeroid syndrome, which may help uncover mechanisms of normal aging and suggest targets for new treatments.
1 citations
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September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
July 2026 in “Indian Journal of Dermatology Venereology and Leprology” 74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
35 citations
,
September 2003 in “Archives of dermatology” This study proposed that the tiger tail phenomenon in trichothiodystrophy hair is caused by regular undulations of hair fibers, altering the optical properties seen under polarized light.
33 citations
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January 2007 in “Pediatric dermatology” This report describes a 3.5-year-old girl with argininosuccinicaciduria, highlighting congenital trichorrhexis nodosa as a notable feature associated with the disorder.