research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
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900-930 / 1000+ results research Skin Signs as the Presenting Manifestation of Severe Nutritional Deficiency
Severe nutritional deficiency can cause serious health and development issues, including skin problems and hair loss.
research Hair loss in children.
Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
research An X-traordinary stroke
Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Pressure Alopecia in a Pediatric Patient: A Case Report
Early detection and treatment are crucial to prevent permanent hair loss in children with pressure alopecia.
research A Rare Presentation of Late Latent Syphilis With Alopecia and Polyarticular Joint Pain in a 17-Year-old Teenager
Syphilis can cause unusual symptoms like hair loss and joint pain, but treatment is effective.
research Allopregnanolone promotes proliferation and differential gene expression in human glioblastoma cells
Allopregnanolone increases growth and changes gene activity in human brain cancer cells.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research A rare case of woolly hair with unusual associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research Diffuse hair loss associated with hyperprolactinaemia: report of three cases
High levels of prolactin in the blood can be linked to widespread hair loss.
research An Analysis of Ultrastructure of the Hair of Children Treated With Valproic Acid
Valproic acid may cause temporary hair changes like loss or thinning in children.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Telogen effl uvium as the fi rst symptom of Crohn's disease in a child
Hair loss can be an early sign of Crohn's disease in children.
research A 21-Day-Old Boy with an Annular Eruption
A 21-day-old baby had a skin rash that didn't improve with cream and wasn't caused by a fungus.
research VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D
A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research A case of twenty nail dystrophy affecting a 12 year old boy
A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Skin Manifestations of Paediatric Metabolic Syndrome
Children with metabolic syndrome often have skin problems like dark patches, skin tags, stretch marks, infections, acne, and psoriasis, which are linked to obesity and insulin resistance.
research A girl struggling with extremely unruly hair
The girl likely has Loose anagen hair syndrome, which may improve on its own or with minoxidil.
research Ring-shaped Alopecia on the Scalp in a 3-month-old Infant
The infant's hair loss resolved naturally by 20 months without treatment.
research Ischemic Vaso-occlusive Retinopathy as Initial Presentation in Pediatric Systemic Lupus Erythematosus: A Case Report
Early treatment of pediatric lupus-related eye issues is crucial to prevent vision loss.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Homozygous K5Cre transgenic mice have wavy hair and accelerated malignant progression in a murine model of skin carcinogenesis
Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research PA30 Evaluation of markers of inflammation and oxidative stress in patients with premature canities
Premature canities is linked to low vitamin D and B12, family history, and higher MHR.