research Multifocal alopecia of the scalp, axillae, and body
A young man was diagnosed with a rare hair loss condition usually seen in older women.
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300-330 / 1000+ resultsresearch Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research SCURVY PRESENTING WITH CUTANEOUS AND ARTICULAR SIGNS AND DECREASE IN RED AND WHITE BLOOD CELLS
Vitamin C is essential to prevent scurvy and its symptoms.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research selenium and systemic lupus erythematosus (SLE): A double- blind randomised controlled trial
Selenium supplements can help improve symptoms and metabolic markers in lupus patients.
research A Case Report of Autoimmune Hemolytic Anemia with Deep Vein Thrombosis in a 16-year-old Girl - Is It Systemic Lupus Erythematosus?
A 16-year-old girl with autoimmune hemolytic anemia and deep vein thrombosis improved with treatment, possibly indicating systemic lupus erythematosus.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Lichen myxedematosus in a patient with hepatocellular carcinoma
Removing the liver tumor improved the patient's skin condition and hair growth.
research Contemporaneous onset of systemic lupus erythematosus and severe eating disorder; neither the chicken nor the egg
Hormonal changes and social stress may link lupus and eating disorders in teens.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Increased lactate dehydrogenase activity is dispensable in squamous carcinoma cells of origin
High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
research Study of the Association of Some Blood and Urine Markers in Diagnosing in Pediatric Systemic Lupus Erythematous.
Blood and urine markers are important for diagnosing lupus in children.
research Lichen sclerosus et atrophicus and autoimmunity in 250 women
Autoimmune-related phenomena do not affect the progression or characteristics of lichen sclerosus in women.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Autoamputation in a 45-Year-Old Female with Systemic Lupus Erythematosus Overlap with Systemic Sclerosis: A Case Report
Early recognition and tailored treatment are crucial for managing overlapping systemic lupus erythematosus and systemic sclerosis.
research Iron Deficiency Anemia Diagnosed in the Private Practice Setting,
Early detection and treatment of iron deficiency anemia, especially in premenopausal women, is crucial for rapid symptom improvement.
research Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis
Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research 1368 Does mitochondrial dysfunction drive immune privilege collapse in lichen planopilaris pathogenesis?
Mitochondrial dysfunction may contribute to chronic inflammation and immune system issues in Lichen planopilaris.
research [Time and level of response of plasma, liver bone, leachable and stable hair fractions to copper deficiency and loading in the rat (author's transl)].
Copper deficiency lowers blood and liver copper levels in rats, but not in hair or bones.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Clinical Features of Systemic Lupus Erythematosus Patients Complicated With Evans Syndrome
SLE patients with Evans syndrome often show blood issues and need careful monitoring and treatment.