research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
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810-840 / 1000+ resultsresearch Mucinous Lupus Alopecia with Papulonodular Mucinosis as a Sole Cutaneous Manifestation of Systemic Lupus Erythematosus
A rare form of lupus caused hair loss and skin bumps, diagnosed through biopsy, improved partially with treatment.
research A case of erosive pustular dermatosis of the scalp in a pediatric patient
EPDS can cause recurring scalp sores and hair loss if not treated.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research A Case of Neuropsychiatric Systemic Lupus Erythematosus With Hair Loss as the First Diagnostic Symptom
Hair loss was the first sign of a brain-related complication in a woman with lupus, and early treatment helped her hair grow back.
research Moth eaten alopecia as the only manifestation of syphilis: a case from Nepal
Moth-eaten hair loss can be a sign of syphilis.
research Is seborrhoeic dermatitis associated with a diffuse, low‐grade folliculitis and progressive cicatricial alopecia?
Seborrhoeic dermatitis may cause a condition called "seborrhoeic folliculitis," leading to chronic scalp inflammation and scarring hair loss.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Type 3 autoimmune polyendocrine syndrome (APS) diagnosed in an 87-year-old patient with a concomitant chronic autoimmune urticaria
An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
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 CUTANEOUS MANIFESTATIONS OF LUPUS ERYTHEMATOSUS FROM A TERTIARY CARE CENTRE IN COASTAL KERALA
Most lupus patients in coastal Kerala had skin-specific lesions that could help diagnose the disease, and non-specific skin issues were linked to more severe, systemic lupus.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Localized cutaneous necrosis associated with the antiphospholipid syndrome
A woman with lupus experienced skin death due to a blood clotting disorder after stopping a blood thinner, which healed with treatment.
research Psoriatic Alopecia in a Patient with Systemic Lupus Erythematosus
A woman with lupus improved significantly from scalp hair loss after treatment, highlighting the need to identify psoriatic alopecia in lupus patients to avoid permanent hair loss.
research Lichen planus and dyslipidemia: a systematic review and meta-analysis of observational studies
People with lichen planus are more likely to have dyslipidemia, especially higher triglyceride levels.
research Linear Alopecia Areata in a 4-year-old Patient: A Rare Clinical Variant
A 4-year-old had a rare type of hair loss that may have a good outcome.
research DP15 Syphilis: the chameleon disease. A case series of unexpected mimicry
Syphilis can mimic other diseases, making diagnosis challenging, but proper testing and treatment are effective.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research A rare case of Leydig cell tumor resulting in female pattern hair loss
research New-Onset Gastrointestinal Polyposis
A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.