7 citations
,
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.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” This report describes a case of Rothmund-Thomson type congenital poikiloderma, noting minor skin changes, hair loss, and slightly elevated lysine and cystine in the urine.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
11 citations
,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
January 2013 in “Journal of dermatology” This letter to the editor raises the possibility of a new medical entity characterized by symptoms such as poikiloderma, hyperpigmentation, alopecia, malformed bones, lymphedema, and decreased cortisol, but provides no clinical results.
36 citations
,
June 2018 in “Journal of The American Academy of Dermatology” This review examines the increasing clinical applications of dermoscopy in diagnosing various skin conditions and highlights its potential to improve diagnostic accuracy and reduce unnecessary histologic confirmation.
20 citations
,
July 2008 in “Dermatologic Therapy” This review discusses various nonfollicular scalp conditions causing secondary scarring or permanent alopecia and highlights the importance of specific diagnoses and treatments but reports no new results.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
23 citations
,
March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
80 citations
,
March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
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.
7 citations
,
July 2011 in “Survey of Ophthalmology” This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.
1 citations
,
January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
33 citations
,
November 2006 in “Survey of Ophthalmology” This report discusses the various causes and clinical assessment of madarosis, emphasizing the importance of recognizing and diagnosing associated vision or life-threatening conditions, without presenting new findings.
1 citations
,
January 1986 in “PubMed” This case report describes a young patient with a unique combination of dysmorphism, bullous eruption, skin and muscle atrophy, and hyperpigmentation that doesn't fit existing nosological categories.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” This review discusses various genetic and acquired skin diseases that can affect male fertility, highlighting the clinical management challenges and reports no new research findings.
18 citations
,
June 1995 in “International Journal of Dermatology” Women experience various skin issues at different life stages, requiring careful treatment and awareness.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.
2 citations
,
August 2023 in “Die Dermatologie” This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.
December 2025 in “Italian Journal of Anatomy and Embryology” This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
8 citations
,
September 2016 in “Reviews in Endocrine and Metabolic Disorders” Skin health and diseases are closely linked to metabolic processes.
This chapter provides an overview of terminology for various skin lesions, including primary and secondary types, but does not report new findings or results.
2 citations
,
January 2017 in “Journal of Pigmentary Disorders” This study explores the complex and not yet fully understood causes of premature hair greying, noting genetic factors such as Pax3 and MITE genes, potential defects in melanin transfer, and associations with certain syndromes, while stating that effective treatments are currently lacking.
195 citations
,
January 2008 in “Photochemistry and Photobiology” This review discusses the effects of visible light on human skin, highlighting its role in pigmentation, thermal damage, and the treatment of several skin conditions, while noting limited sunscreen protection against it; no new clinical results are reported.
157 citations
,
August 2010 in “Lupus” This review discusses the various common, rare, and unusual skin manifestations of lupus erythematosus and highlights the importance of accurate diagnosis, but it reports no new clinical results.