research Evaluation of Clinical and Oral Findings in Patients with Epidermolysis bullosa
People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
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270-300 / 1000+ resultsresearch A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Chronic Skull Osteomyelitis following Skin Graft: A Case Report and Literature Review
A young girl developed serious bone inflammation in her skull after a skin graft, which is a rare but severe condition.
research Chronic Osteomyelitis of Cranial Bones in a Patient with High-Voltage Electrical Burn on the Scalp: A Case Report
A patient with a severe scalp burn developed chronic bone infection, treated with surgery and muscle-skin flap from the back.
research New approaches to the treatment of osteoporosis
Future osteoporosis treatments should focus on increasing bone growth, with many promising options available.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
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 A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Reviewer #1 (Public review): Mesenchymal Meis2 controls whisker development independently from trigeminal sensory innervation
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
research NETHERTON'S SYNDROME AND ICHTHYOSIS LINEARIS CIRCUMFLEXA
Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
research Medical, dental and dual-degree ‘Oral-Maxillofacial’ signatures — what have I seen over the past 22 years?
The document compares oral-maxillofacial surgery training in Thailand, France, and Germany, highlighting differences in curriculum focus and medical rotations.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Contouring of the Forehead Irregularities (Washboard Effect) With Bone Biomaterial
Cerament effectively corrected forehead irregularities in one patient, and various surgical techniques successfully reconstructed perioral soft tissue in 14 patients.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research The Evolution of Oral and Maxillofacial Surgery Over the Past 100+ Years—With Special Emphasis on the Role of Fluoride and the High-Speed Handpiece
Oral and maxillofacial surgery has advanced with fluoride reducing tooth decay and high-speed handpieces aiding in more aesthetic procedures, leading to changes in practice and training.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Open Discussion
Muscle-only free flaps for skull coverage have more long-term complications than composite flaps.
research Sex hormones and sarcopenia in older persons
Sex hormone treatments can increase muscle mass in older adults but have inconsistent effects on muscle function and may carry cardiovascular risks.
research Surgical approach of ectropion in lamellar ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
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 Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Mandibular Ligament and the Prejowl Sulcus Explained
Fat grafting is more effective and safer for correcting jowls than ligament release.
research Ishige sinicola extract stimulates osteoblast proliferation and differentiation via the bone morphogenetic protein 2/runt-related gene 2 signalling pathway
Ishige sinicola extract helps bone-building cells grow and mature, which could aid in treating osteoporosis.