research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
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research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research PIK3CA gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Keratosis follicularis spinulosa decalvans in a family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Constipation With AMA and ANA Positivity as an Atypical Manifestation of Celiac Disease: A Case Report
A strict gluten-free diet can improve liver issues in celiac disease.
research Severe Alopecia Complicating Systemic Sclerosis
A woman with severe hair loss due to systemic sclerosis regrew her hair in 4 months using a combination of treatments.
research Central Centrifugal Cicatricial Alopecia in the Adolescent Population: An Overview of Available Literature
CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Anemia Assessment among the First-trimester Pregnant Women: A Cross-sectional Hospital-based Study in Mysore District, Karnataka, India
Many first-trimester pregnant women in Mysore have anemia and iron deficiency, needing better care and interventions.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research Clinical evolution of alopecia areata with a male androgenetic alopecia pattern to sisaipho.
A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Sjögren's Syndrome in Scurvy
Scurvy may cause symptoms similar to Sjögren's syndrome, which disappear with vitamin C.
research Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research Central centrifugal cicatricial alopecia
CCCA causes progressive hair loss in Black women, starting from a central scalp patch.
research A 15-YEAR-OLD FEMALE PATIENT DIAGNOSED WITH SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) AND INITIALLY PRESENTED WITH LUPUS NEPHRITIS, CEREBRITIS, AND DIFFUSE ALVEOLAR HEMORRHAGE (DAH)
Early recognition and treatment of severe SLE symptoms can improve outcomes.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Sisaipho alopecia areata treated with tofacitinib and oral minoxidil
Tofacitinib and oral minoxidil may help treat Sisaipho alopecia areata.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Evaluation of Serum Homocysteine, High-Sensitivity CRP, and RBC Folate in Patients with Alopecia Areata
Patients with alopecia areata have lower RBC folate levels, especially in severe cases.