research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
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research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Ophthalmologic Features of Thallium Poisoning
Thallium poisoning can cause serious eye problems and other severe health issues.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
A gene mutation causes woolly hair in a Syrian patient.
research A tricky case of hair loss in a child: Trichoscopy saves the day
Trichoscopy helped diagnose and cure a child's hair loss caused by a fungal infection.
research Severe Hyperandrogenemia and Insulin Resistance in a 12-Year-Old Girl
A 12-year-old girl with very high testosterone and insulin resistance improved with birth control pills, suggesting PCOS can cause high testosterone without tumors.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research The genetics of hair shaft disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research The complex relationship between TFEB transcription factor phosphorylation and subcellular localization
Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Early leonine facies with alopecia in a young man
A young man was diagnosed with trichoepitheliomas, causing thick skin and hair loss.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research SWEET SYNDROME: AN UNUSUAL PRESENTATION OF CHRONIC GRANULOMATOUS DISEASE IN A CHILD
A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
research Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research Monilethrix
Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
research CHRONIC TELOGEN EFFLUVIUM
Chronic Telogen Effluvium is a hair loss condition in middle-aged women that usually doesn't lead to complete baldness.
research PATHOGENESIS, DIAGNOSIS, AND MANAGEMENT OF TELOGEN
Telogen effluvium is a common, reversible hair loss condition treatable with patient education and sometimes Minoxidil.
research Immunological Profile of Patients Presenting Down Syndrome and Alopecia Areata
Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
research Multifocal Malignant Proliferating Trichilemmal Tumour: A Diagnostic Imitator Beyond the Scalp
Recognizing specific markers is crucial for correctly diagnosing and treating rare multifocal MPTT in males.
research Integrated multiple machine learning and Mendelian randomization reveal LTF gene as a prognostic biomarker for nonspecific orbital inflammation
The LTF gene may help predict and manage nonspecific orbital inflammation.
research Trichotillomania Across Circuits: Neurobiology, Sensory Processing, and Genetic Insights
Trichotillomania treatment is improving with new therapies, but challenges like stigma and lack of training remain.
research Maladaptive Hypothyroidism, or The Famine Response, After Bariatric Surgery: TSH not the Gold Standard For Detection
TSH is not reliable for detecting hypothyroidism after bariatric surgery; FT3/rT3 ratio is better.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.