15 citations
,
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
,
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
,
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.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
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
,
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
,
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.
6 citations
,
August 1993 in “Archives of Dermatology” This article describes the first documented case of acquired uncombable hair syndrome in a 39-year-old woman, contributing to the understanding of this rare condition.
24 citations
,
January 1969 in “Archives of Dermatological Research” Hair malformations may occur due to timing issues in hair development.
27 citations
,
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.
7 citations
,
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.
18 citations
,
December 2006 in “Clinical dysmorphology” This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.
June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.
1 citations
,
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.
5 citations
,
December 2016 in “Microscopy Research and Technique” This study suggests that prenatal infusion of epidermal neural crest stem cells may improve certain neural markers and reduce cortical injury in a mouse model of methylazoxymethanol-induced malformations.
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.
4 citations
,
January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
7 citations
,
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.
18 citations
,
June 2018 in “Journal of Dental Research” This study found that during amelogenesis in Msx2 null mice, a dysfunctional enamel organ developed due to abnormal epithelial transformation and lacked proper enamel formation.
June 2025 in “British Journal of Dermatology” In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.
3 citations
,
November 2018 in “Curēus” This article reviews the occurrence of ectopic sebaceous glands in hair follicle matrix during hair embryogenesis and reports no new clinical results, indicating unknown pathogenesis and clinical implications.
4 citations
,
May 1994 in “Neurology” This report describes a 3-year-old boy with a potential new neurocutaneous syndrome characterized by unilateral alopecia, ipsilateral hemimegalencephaly, and intractable seizures.
17 citations
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May 2007 in “British Journal of Dermatology” This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.
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.
June 2018 in “CRC Press eBooks” This article reviews congenital and developmental skin conditions in foals and reports no new clinical results; it notes that these conditions can be influenced by genetic and environmental factors.