research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
Search
for
Sort by
Research
690-720 / 1000+ resultsresearch Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research PSEUDOPELADE: AN INHERITED ALOPECIA
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research FOX FORDYCE DISEASE IN A PREPUBERTAL GIRL
A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
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.
research 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 Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research Chronic cutaneous lupus erythematosus presenting as atypical acneiform and comedonal plaque: case report and literature review
Chronic cutaneous lupus erythematosus should be considered when acne treatments don't work.
research Low Free Thyroxine (FT4) in critically ill juvenile systemic lupus erythematosus: a diagnostic approach
Low free thyroxine (FT4) is common in young lupus patients and needs quick diagnosis and treatment.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research Cutaneous asthenia (Ehlers–Danlos syndrome) in a cat
A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Moniletherix
Monilethrix causes short, fragile hair with no specific treatment available.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Loose anagen hair syndrome: take a closer look!
A 35-month-old girl exhibited symptoms of loose anagen hair syndrome, characterized by hair lightening and reduced growth over 1 year. Examination showed hair of unequal length, a positive and painless hair pull test, and specific microscopic features such as longitudinal grooves and uniquely shaped bulbs. The condition typically involves anagen hairs lacking inner root sheaths. In this case, spontaneous resolution occurred within 24 months, with normal hair recovery, although minoxidil was suggested as a potential future treatment.
research Acknowledging the Clinical Heterogeneity of Lupus Erythematosus
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
research Focal perifollicular mucinosis of the eyelid presenting as a benign nevus
A rare skin condition was misdiagnosed as a harmless mole on a woman's eyelid.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.