research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
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150-180 / 1000+ results research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Corticosteroids for the treatment of Duchenne muscular dystrophy
Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.
research Unilateral Thalamic Infarction Associated with Rupture of Dissecting Posterior Cerebral Artery in Childhood-Onset Systemic Lupus Erythematosus: A Case Report
A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.
research A case of multifocal acquired demyelinating sensory and motor neuropathy with whole body alopecia
Immunological treatment improved both neuropathy and alopecia.
research Fourth Nerve Palsy After Hair Replacement Surgery and Prolonged Vertical Position in a Patient With Mega-Cisterna-Magna: Report of a Case
A man developed an eye nerve issue after hair surgery due to prolonged upright posture affecting brain fluid balance.
research Evaluating purified exosome product and its role in neurologic and functional recovery following spinal cord injury in female rats
IT PEP may help recovery after spinal cord injury, but more research is needed.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Thyrotoxic hypokalemic periodic paralysis in a Brazilian male: a case report
Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
research Pramipexole
Pramipexole can cause side effects like dizziness, sleepiness, hallucinations, and low blood pressure, and it's important to educate patients and keep doses low.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research [Sodium valproate-induced kinky hair].
A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research Cerebellar Changes in Guinea Pig Offspring Following Suppression of Neurosteroid Synthesis During Late Gestation
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Reversible severe myopathy during treatment with finasteride
research Reversible severe myopathy during treatment with finasteride
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Cervical spine imaging and treatment outcomes in scalp dysesthesia: A retrospective cohort study
Degenerative changes in the lower cervical spine are common in patients with abnormal scalp sensations, with some improvement seen using pain medication and physical therapy.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Severe lupus vasculitic neuropathy
Correct diagnosis and treatment of lupus vasculitis improved the woman's severe symptoms.