16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
8 citations
,
November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
July 2026 in “Clinical Cosmetic and Investigational Dermatology” In this case report, a 9-year-old boy with Sjogren-Larsson syndrome was also diagnosed with central precocious puberty, showing genetic mutations and increased hormone levels; he was treated with triptorelin acetate for CPP but experienced growth delay during follow-up.
1 citations
,
January 1999 in “Dermatology”
47 citations
,
March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
179 citations
,
December 1989 in “Medical Entomology and Zoology” This article provides a comprehensive review of ichthyoses, including their classification, biochemistry, associated syndromes, and therapeutic approaches, but reports no new clinical findings.
147 citations
,
January 2003 in “American journal of clinical dermatology” This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
12 citations
,
February 2023 in “Journal of Personalized Medicine” This review discusses the complex interplay of genetic and environmental factors in Type 1 Diabetes Mellitus and its frequent association with other autoimmune conditions, focusing on personalized medicine to potentially improve patient care.
8 citations
,
February 2010 in “Journal für Kardiologie (Krause & Pachernegg GmbH)” This study developed a detailed classification system for functional androgenization in females that may enhance diagnosis and personalized treatment by identifying individual dysfunctions.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
251 citations
,
October 2014 in “The Journal of Clinical Endocrinology & Metabolism” The guidelines advise against using testosterone and DHEA in women for most conditions due to safety and effectiveness concerns, but suggest considering testosterone for postmenopausal women with low sexual desire.
66 citations
,
June 2018 in “British Journal of Dermatology” These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
January 2016 in “SpringerBriefs in bioengineering” This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.
3 citations
,
March 2005 in “Journal of the American Academy of Dermatology” This case report describes a patient with Birt-Hogg-Dube syndrome exhibiting multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
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.
61 citations
,
April 1980 in “Journal of the American Academy of Dermatology” This case study describes a young woman with a unique syndrome combining lamellar ichthyosis, neuroectodermal and mesodermal defects, and hair with trichoschisis and low sulfur content.
This abstract compiles a list of medical syndromes and conditions related to tongue abnormalities and other systemic features but reports no new research findings.
248 citations
,
August 2015 in “Pharmacological Research” This review discusses case reports of autoimmune diseases following vaccination and the challenges of establishing a clear epidemiological connection, urging further investigation into vaccine-induced autoimmunity.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
27 citations
,
September 2014 in “JAMA dermatology” In this NIH study, female donor to male recipient sex mismatch was significantly associated with the development of vitiligo and/or alopecia areata in patients with chronic graft-vs-host disease.
1 citations
,
January 2012 in “Juntendō Igaku/Juntendo igaku” This study found that a simplified classification based on clinical and morphological features may aid in the diagnosis and initial management of inherited keratinizing disorders, although genetic analysis is essential for definitive diagnosis.
August 2014 in “Springer eBooks” This article proposes that the combined genetic factor of filaggrin deficiency and environmental factor of staphylococcal biofilms contribute to the development of eczema and ichthyosis vulgaris, but reports no new clinical findings.
81 citations
,
June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
3 citations
,
March 2012 in “Actas Dermo-Sifiliográficas” An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
This case report describes a 3-month-old infant with acquired acrodermatitis enteropathica who was successfully treated with zinc supplementation over 3 weeks.
5 citations
,
January 2016 in “Journal of The American Academy of Dermatology” This review discusses inflammatory and medication-related nephrocutaneous disease associations and emphasizes the importance of timely referral to nephrology for early management, but it reports no new clinical results.