January 2022 in “Gastro Hep advances” This case report describes a woman diagnosed with Cronkhite-Canada syndrome whose gastrointestinal symptoms and alopecia improved significantly after systemic prednisone treatment, with no recurrence four years after a second treatment course.
August 2016 in “KU ScholarWorks (The University of Kansas)” This study demonstrated that transplanting in vitro differentiated Wharton's jelly mesenchymal stem cells on acellular dermal grafts led to complete skin regeneration with appendages in a mouse model of full-thickness wounds.
August 2013 in “Gastroenterology” This case report highlights a 60-year-old patient's diagnosis with Cronkhite-Canada syndrome, characterized by gastrointestinal polyps, diarrhea, weight loss, brittle nails, alopecia, and skin changes, which showed improvement with treatment.
May 2012 in “International Journal of Dermatology and Venereology” This article reviews the morphogenesis and cycling of hair follicles and the complex signaling pathways involved, without reporting new experimental results.
58 citations
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July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
16 citations
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September 2006 in “Journal of Cutaneous Pathology” This study found that the p63 transcription factor is expressed during rat epidermal development and may serve as a specific marker for keratinocyte progenitor cells.
158 citations
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January 2009 in “The International Journal of Developmental Biology” This perspective highlights the potential of reptile integument as an experimental model to understand the evolution of amniote skin structures, but reports no new research findings.
73 citations
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June 2017 in “Experimental Dermatology” The authors suggest that tooth, dermal scale, epidermal scale, feather, and hair evolved in parallel from a shared placode/dermal cell unit in an early vertebrate gnathostome with odontodes, around 420 million years ago.
61 citations
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April 1969 in “Archives of Dermatology” This study highlights a case where progressive baldness initially diagnosed as alopecia universalis was attributed to a basal cell hamartoma of each hair follicle, stressing the importance of skin biopsies for unusual alopecia cases.
41 citations
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October 2008 in “The American journal of pathology” This study found that reducing BMP signaling in mouse nipple epithelia, achieved through Noggin overexpression, can convert them into hairy skin with pilosebaceous units.
26 citations
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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.
19 citations
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January 2007 in “Journal of medical investigation” This study found that transplanting GFP transgenic tail skin onto wild-type mice leads to partial replacement of dermis, nerves, and blood vessels by recipient tissue after six months, while epidermis, hair follicles, and sebaceous glands persist from the graft.
15 citations
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July 2024 in “Current Issues in Molecular Biology” This narrative review explores the molecular mechanisms driving skin development and their role in skin diseases, emphasizing how disruptions in these pathways can lead to conditions like congenital disorders and cancers, potentially guiding new targeted therapies.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.
13 citations
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December 2001 in “Dermatologic therapy” This review discusses the clinical presentations of alopecia areata, introduces guidelines for treatment studies, and explores potential changes in cutaneous innervation, but reports no new clinical results.
April 2024 in “Diagnostics” In this study, researchers found that 68% of orthodontic patients with oligodontia displayed hair disorders, such as hypotrichosis and androgenetic alopecia, highlighting trichoscopy and trichogram as valuable diagnostic tools to distinguish between isolated and syndromic forms of the condition.
January 2024 in “Archives of pharmacy practice” This study reviews the embryological origins, anatomical and histological structure, and key functions of the skin, emphasizing its protective, sensory, and regulatory roles, as well as the social and psychological impacts of post-lesion changes.
November 2022 in “Research Square (Research Square)” This study found that keratin-associated proteins related to metallothionein and occludin appear in various animals, suggesting they may have roles beyond hair characteristics and were later adapted for hair production.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
58 citations
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April 2009 in “Current stem cell research & therapy” This review discusses the differentiation and reprogramming capabilities of both hematopoietic and non-hematopoietic stem cells and their significance for regenerative medicine; it reports no new experimental results.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
27 citations
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February 1988 in “Journal of the American Academy of Dermatology” This case report describes a patient with ulerythema ophryogenes who had developmental and physical anomalies and showed no improvement with topical or oral isotretinoin treatments.
1 citations
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August 1981 in “The Journal of Dermatology” This study reported that defects in the hair cuticle were found in every case of major structural hair abnormalities examined.
7 citations
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July 2006 in “Journal of cutaneous pathology” This case report documents the first known instance of an ectopic sebaceous gland and duct within a hair follicle in a 21-year-old male with persistent acneiform eruption.
September 2021 in “Pediatrics in review” This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.
7 citations
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November 1997 in “Pediatric Dermatology” This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
4 citations
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January 2019 in “Indian Dermatology Online Journal” This report discusses two cases of porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus, suggesting they may represent a single clinical entity, but reports no therapeutic outcomes.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
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.