research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
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990-1000 / 1000+ results research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research ТУБЕРОЗНЫЙ СКЛЕРОЗ (БУРНЕВИЛЛЯ-ПРИНГЛА). ОБЗОР ЛИТЕРАТУРЫ
Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Acantholytic hair casts: A dermoscopic sign of pemphigus vulgaris of the scalp
Hair casts on the scalp may be a sign of ongoing pemphigus vulgaris and could suggest a need to adjust treatment.
research Twenty-Nail Dystrophy Treated with Hydroxychloroquine in a Patient with Alopecia Areata
Hydroxychloroquine effectively treated twenty-nail dystrophy in a patient with alopecia areata.
research Left Anterior Descendent Coronary Artery Fistula to Main Pulmonary Artery with Triple Vessel Disease:A Report of Two Cases
Two patients with heart issues had successful surgeries and improved symptoms.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Lupus-Associated Knee Pain: An Atypical Presentation of Systemic Lupus Erythematosus in a Young Male
SLE can occur in young males and cause knee pain.