Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.

This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.

This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.

This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

This review discusses recent advances in the understanding of follicular melanogenesis and its pathological changes, particularly how these changes are associated with specific disease phenotypes, but it reports no new results.

This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.

This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.

This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.

The document concludes that various hair disorders have different treatments, including medication, surgery, and addressing underlying causes.

This reference list, part of a book by Alex Gough, Alison Thomas, and Dan O'Neill, compiles citations from veterinary journals on various canine and feline health issues, but reports no new research findings.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

This article reviews pediatric hair growth issues, common causes of hair loss in children, and approaches to diagnosis, but presents no new clinical findings.

This article reviews hair growth and loss in children and offers diagnostic approaches, reporting no new results.

This article explores the causes and associated syndromes of premature hair hypopigmentation, emphasizing a need for better understanding to guide individual patient education and treatment.

This article discusses the rising prevalence and serious implications of childhood obesity and reports no new experimental findings; the authors emphasize the importance of prevention and early intervention through comprehensive management programs.

This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.

This study highlights that prolonged voriconazole use is linked to an increased risk of aggressive cutaneous malignancies like squamous cell carcinoma, necessitating careful monitoring of drug levels to manage adverse effects.

This study describes a case of vitamin D resistant rickets in a young girl due to end organ unresponsiveness, highlighting a possible new subtype of the disorder with distinct clinical features.

This review discusses the use of biotin for hair and nail growth, noting clinical improvement in cases with existing pathologies, but concludes there is insufficient evidence supporting its benefits for healthy individuals.

The authors concluded that liver transplantation in children with propionic acidemia can reduce the risk of metabolic decompensation and enhance quality of life, although some metabolic issues may persist.

Most dermatologic medications are safe during pregnancy and breastfeeding, but some should be avoided due to potential risks.

This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.

This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.

This review discusses the oral manifestations associated with hematologic conditions and nutritional deficiencies, without presenting new research results; it emphasizes the impact of blood disorders and vitamin deficiencies on oral health.

This review examines complementary and alternative medicine for alopecia and finds limited support from robust clinical trials, highlighting the need for standardized studies to evaluate efficacy and safety.

This review proposes a classification system for childhood hair loss based on clinical appearance, age of onset, and associated symptoms, but reports no new clinical results.

This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.

In this study, a 54-year-old woman with short bowel syndrome developed biotin deficiency and associated symptoms while on home parenteral nutrition lacking biotin, which improved significantly after supplementation.

This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.