research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
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690-720 / 1000+ results research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Unique Cutaneous Reaction to Second- and Third-Generation Tyrosine Kinase Inhibitors for Chronic Myeloid Leukemia
Certain leukemia drugs can cause severe skin reactions that may require stopping treatment.
research Effect of hypochromotrichia on hair copper and zinc during kwashiorkor
Malnutrition can change hair color due to altered copper and zinc levels.
research Corkscrew hairs
The woman has scurvy and needs more vitamin C.
research Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis
Patients with Type 1 diabetes should be screened for pernicious anemia.
research Vitamin B 12 Deficiency: A Rare Cause of Excessive Daytime Sleepiness
Vitamin B12 deficiency can rarely cause excessive daytime sleepiness.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Segmented Heterochromia in Black Scalp Hair Associated With Iron-Deficiency Anemia
Iron deficiency can cause hair color changes, which can be reversed with iron supplements.
research Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice
Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
research 353 Alopecia as a Symptom of Neonatal Lupus
Alopecia can be a symptom of Neonatal Lupus.
research Telogen Effluvium: Prevalence Associated Factors with Reference to Iron Deficiency Anemia Among Childbearing Women, Gharbia Governorate, Egypt.
Iron deficiency anemia is significantly linked to hair loss in childbearing women, and taking iron improves the condition.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research 768 Dermal fibroblast expression of lef1 is critical to normal skin and hair development and regenerative wound healing in mice
Lef1 is essential for normal skin, hair growth, and healing wounds in mice.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research 676 An underlying mechanism of hair loss in acrodermatitis enteropathica
Zinc deficiency causes reversible hair loss by disrupting hair growth and stem cell function.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research The effect of DNMTs and MBPs on hypomethylation in systemic lupus erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
research Nefritis Lupus: Klasifikasi dan Tata Laksana Terkini
Early detection and tailored treatment of lupus nephritis are crucial to prevent kidney damage.
research La FDA aprueba Litfulo® (ritlecitinib) para el tratamiento de la alopecia areata grave en adolescentes y adultos
The FDA approved Litfulo® for treating severe alopecia areata in people aged 12 and older.
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.