research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
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research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research (26) Acne due to congenital adrenal hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
research Polymorphisms in Genes Involved in Steroidogenesis in the Development of Severe Acne
Certain gene variations are linked to a higher risk of severe acne, suggesting a genetic influence on the condition.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Androgenetic Alopecia and Metabolic Syndrome: Is Alarin a Missing Link?
Higher alarin levels might link hair loss and metabolic syndrome.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Ursolic acid, a pentacyclic triterpene from Ochrosia elliptica Labill leaves and its role in the management of polycystic ovary syndrome (PCOS)
Ursolic acid from Ochrosia elliptica leaves may help manage PCOS symptoms.
research Upadacitinib for management of recalcitrant alopecia areata: A retrospective case series
Upadacitinib cleared scalp alopecia areata in three patients and also improved atopic dermatitis with minimal side effects.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research 030 Impaired Glutathione Synthesis in Hair Follicle Stem Cell Niches in Alopecia Areata
Alopecia Areata may involve reduced antioxidant defenses in hair follicles, affecting stem cell function.
research Comparative ubiquitinomics of human skin reveals insulin receptor ubiquitination as a regulator of collagen secretion
Ubiquitination of the insulin receptor regulates collagen secretion in human skin.
research Calcitriol-resistant rickets with alopecia
Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
research Calcitriol-Resistant Rickets With Alopecia
Calcitriol-resistant rickets is an inherited disorder that affects hair growth and causes hair loss.
research Upadacitinib Therapy in Adolescent Severe Alopecia Areata: A Case Series and Narrative Review
Upadacitinib is effective and safe for treating severe Alopecia Areata in adolescents.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research Effectiveness of Abrocitinib in Adolescent Alopecia Areata: A Prospective Observational Pilot Study
Abrocitinib significantly improved hair regrowth in adolescents with alopecia areata without serious safety issues.
research Longer TA repeat but not V89L polymorphisms in the SRD5A2 gene may confer acne risk in the Chinese population
Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
research Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients
Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.