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This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.

This case study describes a 9-year-old girl with a homozygous EGFR gene mutation, presenting with tubulopathy and chronic dermatitis, whose ongoing symptoms and management offer insights into this rare genetic condition.

This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.

This article discusses the importance of interpreting laboratory data and performing physical assessments to support pharmacists in clinical decision-making and patient consultations, but reports no new empirical findings.

This study found that measuring specific steroid hormone levels can aid in diagnosing P450 oxidoreductase deficiency, a subtype of congenital adrenal hyperplasia, by distinguishing affected patients from healthy individuals.

This case report highlights a rare instance of severe multi-organ involvement following a single dose of methotrexate for ectopic pregnancy, requiring intensive care but ultimately successfully treated with leucovorin and supportive care.

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.

This review examines hair shaft disorders, reporting limited evidence for treatments like minoxidil and oral retinoids, and emphasizes gentle hair care and genetic counseling for managing congenital cases.

A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.

This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.

The document explains the genetic causes and characteristics of inherited hair disorders.

This book review, published in the Journal of Paediatrics and Child Health, provides no new research findings.

This review integrates studies on mouse models and human clinical observations to highlight the role of immune cells in skin development and how their dysregulation leads to skin disorders, suggesting potential therapeutic pathways for skin regeneration.

This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.

This study found a statistically significant increase in glycosylated hemoglobins among patients with adult-acquired panhypopituitarism undergoing long-term GH replacement therapy, with two developing diabetes requiring treatment.

This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.

This retrospective review of hair samples from pediatric patients indicated that microscopic hair examination might be a useful first-line investigation for diagnosing various genetic conditions.

This review highlights that children with adrenal disorders may experience neurological and psychiatric symptoms, with potential long-term cognitive and behavioral effects from excess glucocorticoids.

This study found that gastric exclusion surgery in morbidly obese patients resulted in significant weight loss, improved metabolic parameters, and reduced prevalence of hypertension, diabetes, gout, and hyperlipidemia over time.

This case report describes a 9-month-old male infant with Netherton syndrome, highlighting the importance of early diagnosis and treatment initiation for better management of symptoms and prevention of misdiagnosis.

This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.

This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

Diuretics help the body get rid of excess salt and water by acting on the kidneys in different ways.

This case study reported that Dupilumab treatment improved eczema, itch, and hair condition in a girl with Netherton Syndrome, as shown by over 40% improvement in various dermatological scores; however, significant flares of ichthyosis linearis circumflexa persisted.

This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.

Lithium poisoning can cause severe health complications and requires careful monitoring.

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.

This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.