43 citations
,
February 2008 in “Journal of cutaneous pathology” This study revealed that during fetal development, MITF and Mart-1 expressing melanocytes progress from the dermis to the epidermis and hair follicles, with MITF possibly marking follicular stem cells.
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.
January 2007 in “Jiepouxue yanjiu” This study found that transplanted ES cell-derived epidermal stem cells promoted the formation of epidermis, sweat gland-like, sebaceous gland-like, and hair follicle-like structures in mouse skin defects.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.
111 citations
,
May 2001 in “Human reproduction update” This review discusses the role of genetic mutations and environmental endocrine disruptors in insufficient androgen action, which can result in conditions like hypospadias, cryptorchidism, and micropenis, during male fetal development.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
11 citations
,
July 2012 in “Current Opinion in Pediatrics” This review discusses dermatologic signs in childhood endocrine disorders and highlights their importance in early diagnosis and treatment, but it reports no new clinical findings.
46 citations
,
October 2012 in “Seminars in reproductive medicine” This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.
August 2023 in “Journal of Investigative Dermatology” Skin organoids can regenerate hair by forming specific cell units with certain signals.
18 citations
,
February 2001 in “Der Hautarzt” This case study of a 50-year-old woman with myotonic dystrophy and multiple basal cell carcinomas suggests there could be a genetic predisposition for certain cutaneous tumors in such patients.
41 citations
,
January 2015 in “Development” This study found that inducing Atoh1 expression in transgenic mice is sufficient to generate new Merkel cells in the epidermis, with variations by skin location, developmental age, and hair cycle stage.
128 citations
,
March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
2 citations
,
August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
84 citations
,
June 1970 in “Journal of Investigative Dermatology”
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.
2 citations
,
September 2004 in “Experimental Dermatology” This study found that desmosomal adhesion plays a crucial role in epithelial morphogenesis and cell positioning, equivalent in importance to that of adherens junctions.
December 2023 in “The Sri Lanka Journal of Dermatology” In this case report, a 12-year-old girl was diagnosed with alopecia as part of the rare ALX4-related frontonasal dysplasia sequence, highlighting the condition's uniqueness in pediatric dermatology.
18 citations
,
August 2018 in “The FASEB journal” This study found that Hoxc13-/- rabbits exhibit complete hair loss on the head and dorsum, providing a potential model for understanding human ECTD-9 and related dermatological conditions.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
5 citations
,
January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” This review reports two new cases of porokeratotic eccrine and hair follicle nevus and analyzes all known cases in the Spanish and English literature, suggesting a link to a GJB2 gene mutation.
19 citations
,
March 1988 in “International Journal of Dermatology” This paper reviews different types of hair shaft dysplasias and does not report any new clinical findings.
125 citations
,
August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
November 2023 in “International Journal of Trichology” This case report describes a male child with alopecia areata and renal dysgenesis, highlighting a possible coincidental association that may require future genetic investigation.
3 citations
,
January 2014 in “Indian dermatology online journal” This case report describes a 10-day-old female with aplasia cutis congenita, presenting with two spontaneously healing ulcers on her buttock and no associated abnormalities.
2 citations
,
December 2013 in “Veterinary dermatology” This study describes three adult dogs with sebaceous gland dysplasia, reporting that two showed moderate to marked improvement in symptoms with treatment, though ongoing management is required as the condition cannot be cured.
66 citations
,
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.
30 citations
,
June 1993 in “The Journal of Cell Biology” This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.