134 citations
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January 2011 in “Development” This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.
January 2005 in “Pediatric Dermatology” This article presents a discussion on alopecia areata in infants and concludes that the condition's occurrence in this age group is not as rare as previously thought; it offers no new data.
52 citations
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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.
September 2016 in “Journal of Dermatological Science” This case report describes the first documented instance of epidermal nevus syndrome caused by a postzygotic KRAS G12C mutation in a three-year-old Japanese girl.
19 citations
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August 1996 in “British Journal of Dermatology” This study found that dermal papillae in alopecia areata, including clinically normal follicles, exhibited ultrastructural abnormalities that suggest an early pathological role in the disease's development.
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.
November 2024 in “NeoReviews” This case report details an extremely low-birth-weight preterm neonate presenting with unique dermatologic symptoms, leading to a diagnosis of neonatal inflammatory skin and bowel disease due to a novel homozygous EGFR gene mutation, highlighting the importance of genetic testing in ambiguous cases.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
11 citations
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January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
6 citations
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July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
29 citations
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February 1989 in “Journal of Cutaneous Pathology” This case report identifies a new type of hair matrix tumor called "rippled pattern trichomatricoma," distinguished by its unique cell arrangement and differentiation features.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” In this study, a novel E583V missense mutation in the hairless gene was identified in an Italian family with atrichia with papular lesions, reinforcing the significance of zinc-finger and LXXLL domains in this condition.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
4 citations
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July 2014 in “International Journal of Dermatology” This case report describes the occurrence of eruptive vellus hair cysts in twin patients, adding to the literature on this dermatological condition.
2 citations
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January 1981 1 citations
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May 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study presented two brothers with hereditary acrodermatitis enteropathica who had normal zinc serum levels and experienced skin and hair lesions, but no dental disorders.
1 citations
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November 2022 in “Indian Journal of Dermatology/Indian journal of dermatology” This case study describes a 12-year-old boy with an unruptured epidermal inclusion cyst on his cheek, highlighting the role of dermatoscopy in diagnosing and differentiating cyst types for treatment.
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.
2 citations
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January 2007 in “Journal of The American Academy of Dermatology” Red and infrared light therapy improves hair growth in balding patients.
January 2007 in “Journal of the American Academy of Dermatology” A 73-year-old man's grey-white hair turned dark brown after eczema treatment.
175 citations
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August 1997 in “Nature Genetics” 65 citations
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July 1984 in “Journal of Investigative Dermatology”
August 2025 in “International Journal of Research in Dermatology” This case report highlights an atypical presentation of acrodermatitis enteropathica in an 18-year-old male, exhibiting symptoms like erythrokeratoderma variabilis with a positive response to high-dose oral zinc, underscoring the importance of considering zinc deficiency in unusual skin conditions.
This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.
7 citations
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July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
75 citations
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September 1985 in “Archives of dermatology” This report of ichthyosis follicularis in two boys discusses the challenges of distinguishing it from similar disorders, noting its rarity and unclear inheritance pattern without providing new clinical results.
3 citations
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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.
4 citations
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August 2021 in “Pediatrics in review” This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.
October 2023 in “Indian Dermatology Online Journal” This case report describes a 1.5-month-old baby with Schimmelpenning-Feuerstein-Mims syndrome, manifested by skin and ocular abnormalities along with developmental delays and hearing loss observed later, highlighting the syndrome's progression and need for multidisciplinary management.