research Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
Search
for
Sort by
Research
990-1000 / 1000+ resultsresearch 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Keratosis Follicularis Spinulosa Decalvans
KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.
research Estudo comparativo entre exames clínico, dermatoscópico e anatomopatológico em portadores de alopecia frontal fibrosante, diferenciando melasma e líquen plano pigmentoso / A comparative study between clinical, dermatoscopic and pathological examinations in patients with frontal fibrosing alopecia, differentiating melasma from lichen planus pigmentosus
Most cases were lichen planus pigmentosus, highlighting the need for accurate diagnosis for proper treatment.
research Pilomatricoma with Florid Osseous Metaplasia: A Cytologist’s Perspective
A rare skin tumor with bone formation was successfully removed without recurrence.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Onycholemmal horn: A distinctive subungual tumour
Onycholemmal horn is a rare nail tumor in elderly women, treated by surgical removal.
research A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue
A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.