April 1955 in “Archives of pediatrics & adolescent medicine” This article discusses prevalent skin diseases in children, including alopecia areata, and reports no new clinical results; it outlines conditions and treatment options without presenting original data.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
2 citations
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March 2017 in “Sultan Qaboos University medical journal” This case report describes a six-month-old infant with focal scalp hair heterochromia and no detectable underlying abnormalities, which was still present at a one-year follow-up.
October 2021 in “European Journal of Dermatology” In this study, the researchers reported that calcipotriol pre-treatment made photodynamic therapy more effective and safe than conventional treatment for actinic keratosis on the scalp, improving long-term clearance rates, especially for Grade II lesions. However, they suggested larger trials are necessary to corroborate these findings.
77 citations
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April 1968 in “Development” This study found that excess vitamin A in organotypic cultures of embryonic mouse skin led to abnormal hair follicle development and glandular metaplasia, unlike in untreated controls that showed normal differentiation.
2 citations
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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.
February 2023 in “Research Square (Research Square)” This case report describes a 16-month-old girl with atypical acrodermatitis enteropathica who showed marked improvement after zinc supplementation despite normal serum zinc levels.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
4 citations
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June 2023 in “Journal of developmental biology” In this study, researchers propose that different vertebrate skin appendages, such as hair, feathers, and scales, evolved in parallel from a shared ancestral cell structure associated with teeth, dating back approximately 420 million years ago.
3 citations
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December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study revealed key cellular dynamics and interactions during early embryonic mouse skin development, highlighting complex transitions from precursor states to diverse multilayered structures.
December 2022 in “Curēus” This case report describes a 5-year-old girl with atrichia with papular lesions, whose diagnosis was confirmed through genetic testing identifying mutations in the hairless gene.
35 citations
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September 2006 in “American Journal Of Pathology” In this study, researchers found that overexpression of the Hedgehog signaling effector Gli2 in mice led to odontogenic keratocysts development, implicating GLI transcription factors in human keratocyst pathogenesis.
128 citations
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March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
November 2020 in “International journal of contemporary pediatrics” This study reports two siblings with severe combined immunodeficiency due to a mutation in the FOXN1 gene, characterized by T-cell immunodeficiency, alopecia totalis, and nail dystrophy.
December 2022 in “Laboratory Animal Research” This study described two cases of trichoblastomas in the tactile hair skin of aged house musk shrews, highlighting that their histological structure differs from that in humans and other animals.
175 citations
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December 1980 in “Archives of Dermatology” In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.
53 citations
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August 2015 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This review discusses congenital generalized hypertrichosis, focusing on its association with complex malformation syndromes, but it presents no new research findings.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
14 citations
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January 2010 in “Dermatology” This study reports five cases of congenital triangular alopecia featuring a central island of short terminal hair, with the cause remaining unknown.
16 citations
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January 1995 in “Dermatology” This case report discusses chronic mucocutaneous candidiasis with autoimmune and immune deficiencies in candidiasis-endocrinopathy syndrome, noting associated alopecia areata, ineffective topical immunotherapy, and asplenia.
20 citations
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July 2005 in “Experimental dermatology” This study found that the fuzzy mutation in mice is linked to both structural hair defects and accelerated hair follicle cycling, influencing the regulation of hair cycle phases such as catagen and anagen.
This review found an increased prevalence of common skin disorders, such as infectious and inflammatory conditions, in patients with Down syndrome and highlighted the need for improved screening and management guidelines.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This chapter reviews disorders caused by mutations in epithelial keratins, highlighting a range of skin-related manifestations and the evolving role of molecular genetics in diagnosis, but reports no new clinical findings.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
3 citations
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July 2024 in “Dermatology and Therapy” The researchers reported that identifying specific hair shaft abnormalities is crucial for distinguishing patchy/plaque mycosis fungoides from psoriasis and eczematous dermatitis on non-scalp skin using dermoscopy.
54 citations
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January 2016 in “Cell reports” This study found that different epidermal stem cell populations contribute to the formation of various skin tumors and new hair follicles following β-catenin activation in the adult epidermis.
5 citations
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January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” This case study highlights congenital atrichia with papular lesions as a cause of total body hair loss, characterized by the absence of hair follicles and the presence of skin-colored papules.
98 citations
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June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” This report details the clinical presentation of an 18-year-old female with Kallmann syndrome, noting her ocular issues and differences in sexual development. The researchers treated her eye conditions cosmetically with superficial keratectomy and amniotic membrane graft, followed by corneal tattooing and strabismus correction.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.