3 citations
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July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
3 citations
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January 2011 in “Intestinal Research” This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
2 citations
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June 2013 in “Journal of Dermatological Case Reports” This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.
1 citations
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November 2023 in “Curēus” This case report describes a young male with trachyonychia with associated hypertrophic cutaneous lichen planus, reticular oral lichen planus, and nail lichen planus. The diagnosis was aided by dermoscopy and histopathology, highlighting the importance of accurate diagnosis for effective treatment and prognosis.
1 citations
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January 2021 in “Skin appendage disorders” Chemotherapy patients don't all lose their hair due to factors like hair growth rates, age, genetics, and the type of drugs used.
1 citations
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July 2017 in “PubMed” This study describes two Danish cases of Cronkhite-Canada syndrome presenting with malnutrition and gastrointestinal issues; both patients underwent successful treatment and remission after developing colonic adenocarcinomas.
1 citations
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June 2015 in “Australasian Journal of Dermatology” This case report describes a patient with Cronkhite–Canada syndrome, where immunosuppression and nutritional support led to disease remission.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
November 2025 in “Indian Dermatology Online Journal” This case report describes a patient with Clouston syndrome who developed squamous cell carcinoma, highlighting the need for regular follow-up in patients with chronic paronychia that do not respond to conventional treatments.
June 2025 in “British Journal of Dermatology” This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.
April 2025 in “Our Dermatology Online” This article presents a case of a seventeen-year-old female with dermatopathia pigmentosa reticularis and emphasizes the importance of distinguishing its clinical features from other similar disorders, supported by dermoscopic and histopathological findings.
February 2025 in “Gastroenterology” Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.
February 2025 in “Indian Dermatology Online Journal” This case report describes a rare occurrence of pincer nail deformity in a patient with systemic lupus erythematosus, potentially linked to Raynaud's phenomena as a contributing factor.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
April 2024 in “Research Square (Research Square)” This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.
January 2024 in “Case Reports in Dermatological Medicine” In this case report, a patient with alopecia areata-associated nail changes experienced normalization of nail appearance and texture after 11 months of treatment with baricitinib, suggesting that the drug may be an effective option for similar cases, although further research is needed.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” This case report describes an 8-year-old boy in Saudi Arabia diagnosed with IFAP syndrome, highlighting its distinct characteristics and distinguishing features from similar conditions, and notes successful genetic confirmation of the disorder.
October 2023 in “Case reports in dermatological medicine” In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that local PGE2 injection may prevent radiotherapy-induced hair loss by protecting hair follicle cells and promoting hair follicle self-repair.
January 2023 in “World Journal of Clinical & Medical Images” This report discusses a late-onset case of Cronkhite-Canada syndrome that improved with prednisone treatment, highlighting the importance of early diagnosis to reduce life-threatening complications.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
January 2023 in “Indian dermatology online journal” This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.
January 2023 in “Postepy Dermatologii I Alergologii” This review discusses the roles and deficiency symptoms of zinc in human health, emphasizing its dietary importance and potential benefits of supplementation, but reports no new clinical findings.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
March 2021 in “Annals of King Edward Medical University” This report details a case of a 3-year-old child with Clouston syndrome, a rare inherited disorder affecting nails, skin, and hair, highlighting the need for supportive management due to the absence of treatment options.
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.
August 2020 in “International Journal of Research in Dermatology” This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.
February 2018 in “InTech eBooks” This review discusses the role of platelet-rich plasma therapy in various cosmetic procedures, finding potential benefits in improving tissue homeostasis if harvesting standards are maintained, but reports no new clinical results.