research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
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research Elevated body mass index, statin use, and cholecystectomy are associated with vulvar lichen sclerosus: A retrospective, case-control study
Being overweight, having gallbladder removal surgery, and taking cholesterol-lowering drugs are linked to a higher chance of getting vulvar lichen sclerosus.
research 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research Rickets with alopecia: An inborn error of vitaminD metabolism
Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
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 Human essential fatty acid deficiency: treatment by topical application of linoleic acid.
Applying linoleic acid to the skin fixed essential fatty acid deficiency symptoms.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Biotinidase Deficiency Accompanying Hair Changes and Periorificial Lesions: A Case Report
Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
research Macrophage Activation Syndrome/Secondary Hemophagocytic Lymphohistiocytosis in Adult‐Onset Still's Disease: An Uncommon Initial Presentation in a Young Nepalese Female: A Case Report
Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Associated Variables of Myositis in Systemic Lupus Erythematosus: A Cross-Sectional Study
Myositis in lupus patients is linked to skin rash, hair loss, blood issues, and high disease activity.
research Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles
The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
research A Clinicopathological and Immunofluorescence study of Lichen Planus
Lichen planus commonly affects middle-aged adults, often involves limbs and mucosal areas, and can be linked to immune diseases.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research At the Root: Cutaneous Langerhans Cell Histiocytosis
A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
research Lichen Planopilaris and Low-Level Light Therapy: Four Case Reports and Review of the Literature About Low-Level Light Therapy and Lichenoid Dermatosis
Low-Level Light Therapy significantly reduced inflammation and promoted hair regrowth in patients with Lichen planopilaris.
research Diffuse alopecia of the scalp in borderline-lepromatous leprosy in an Indian patient
A neglected leprosy treatment led to rare scalp hair loss in an Indian woman, which improved with proper medication.
research Lamins in development, tissue maintenance and stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
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 Nonscarring alopecia in systemic lupus erythematosus: A cross-sectional study with trichoscopic, histopathologic, and immunopathologic analyses
Hair loss in lupus patients indicates higher disease activity.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Lucio Phenomenon mimicking with Vasculo necrotic Erithema Nodosum Leprosum: A Case Report
A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
research Assessment of Anemia Symptoms in People with Normal Hemoglobin and Low Ferritin
People with normal hemoglobin but low ferritin experience more fatigue and certain symptoms like restless leg syndrome and dizziness.
research Clinicopathological study of discoid lupus erythematosus.
Discoid Lupus Erythematosus is more common in women aged 31-40, often worsened by sunlight, and confirmed by specific lab tests.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.