research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
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research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research Polycystic Ovary Syndrome
PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Selected topics in pediatric hair loss
The document concludes that early diagnosis and treatment are key for pediatric hair loss disorders, and addressing the emotional effects on children is important.
research Study of the Thyroid Profile of Patients with Alopecia
People with hair loss conditions may also have thyroid disorders, but more research is needed to understand the connection.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research The Importance of Trichoscopy in Clinical Practice
Trichoscopy is a valuable tool for diagnosing and managing hair and scalp disorders.
research Dermatopathology Workshop Summary, Berlin 2004
The workshop aimed to improve hair loss disorder diagnosis and understanding.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Book Review Pediatric Endocrinology: A Practical Clinical Guide (Contemporary Endocrinology.) Edited by Sally Radovick and Margaret H. MacGillivray. 582 pp., illustrated. Totowa, N.J., Humana, 2003. $165. 0-89603-946-3
The book is a comprehensive and current guide on hair disorders, with minor flaws.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Scalp Dermoscopy or Trichoscopy
Trichoscopy is a quick, noninvasive method to diagnose hair and scalp disorders, often reducing the need for biopsies.
research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Pinpoint white dots in the scalp: Dermoscopic and histopathologic correlation
Small white dots on the scalp seen with a dermoscope correspond to sweat ducts and vary with different hair disorders.
research The mineralocorticoid receptor as a novel player in skin biology: beyond the renal horizon?
The mineralocorticoid receptor may play a role in skin and hair health and could be a new target for treating related disorders.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Perspectiva cirúrgica - Um comentário sobre: “Alopecia triangular temporal bilateral simulando alopecia androgenética de padrão masculino em mulher adulta: relato de caso e revisão da literatura”
Histopathological confirmation is crucial to accurately diagnose alopecia triangular temporal and avoid unnecessary treatments.
research Oral Presentations
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research S1 guideline for diagnostic evaluation in androgenetic alopecia in men, women and adolescents
Guidelines for diagnosing common hair loss include detailed history, clinical examination, and various diagnostic techniques.
research Female Pattern Hair Loss and its Relationship to Permanent/Cicatricial Alopecia: A New Perspective
Some women with common hair loss may develop permanent hair loss.
research Mild Cutaneous Manifestation in Two Young Women with Extraordinary Hyperandrogenemia
Two women with very high androgen levels had only slight skin issues, one due to a non-classical adrenal disorder and the other due to an adrenal tumor.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research Lipedematous Alopecia: Clinical, Histopathological, and Trichoscopic Findings of a Single Case and Review of the Literature
A 66-year-old woman's thick scalp and hair loss were confirmed as lipedematous alopecia, a rare condition possibly influenced by genetics, with no effective treatment known.