research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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810-840 / 1000+ results research Clinical Manifestations of Dermatomyositis
Most patients with dermatomyositis had skin rash, itching, and muscle weakness, treated mainly with prednisolone and hydroxychloroquine.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Health‐related quality of life (hrQoL ) among patients with primary cicatricial alopecia (PCA ): A systematic review
Primary cicatricial alopecia significantly reduces life quality, mainly due to pain and anxiety.
research Long-term consequences of critical illness
Patients who survive critical illness often face long-lasting physical, mental, and cognitive issues, with many unable to return to work within a year.
research A Signal Based on Spontaneous Reports of Convulsions in Association with Finasteride
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research How rare is isolated rheumatic tricuspid valve disease?
Isolated rheumatic tricuspid valve disease is very rare.
research An X-traordinary stroke
Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
research Pathogenesis in pili torti: morphological study
Pili torti hair twists due to uneven outer root sheath cell development.
research The innervation of the mystacial pad in the adult rat studied by anterograde transport of HRP conjugates
The mystacial pad's innervation in adult rats is more complex than previously thought.
research Tourniquet syndrome in children (literature review and own observation)
Quick action and prevention are crucial to avoid severe complications from tourniquet syndrome in children.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research First use of cord blood platelet-rich plasma in the treatment of vulvar lichen sclerosus: a preliminary study towards a randomized controlled trial.
Cord blood platelet-rich plasma may safely improve vulvar lichen sclerosus symptoms.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Human hair follicle pluripotent stem (hfPS) cells promote regeneration of peripheral‐nerve injury: An advantageous alternative to ES and iPS cells
Human hair follicle stem cells can safely and effectively help nerve regeneration.
research Lipodermatosclerosis: a postphiebitic syndrome
The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
research Long-Term Extensive Ectopic Hair Growth on the Spinal Cord of Mice from Transplanted Whisker Follicles
Transplanted whisker follicles caused long hair growth on the spinal cords of mice.
research 원저 : 피부근염의 임상적 고찰
Most patients with dermatomyositis had skin rash and were treated with prednisolone and hydroxychloroquine.
research Circumferential acute limited exanthematous pustulosis
A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
research Cerebellar Medulloblastoma: Treatment by Irradiation of the Whole Central Nervous System
Irradiating the whole central nervous system can lead to over 50% of patients with cerebellar medulloblastoma surviving three years.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Nonpruritic urticaria – a sign of serious systemic disease
Non-itchy rashes can indicate serious diseases like lupus.
research Alopecia associated with quetiapine
Quetiapine may cause hair loss, a side effect not widely recognized before.
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research A case of pili torti in a young adult domestic short-haired cat
A young cat had a rare hair condition with twisted hair shafts but stayed healthy.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.