research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
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research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
research Myasthenia Gravis Coexisting With Primary Sjögren's Syndrome: Report of Three Cases and Literature Review
Managing myasthenia gravis is crucial and does not worsen primary Sjögren's syndrome.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research The successful treatment of nephrogenic fibrosing dermopathy (NFD) with mycophenolate mofetil (MMF)
Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Clinical study on 88 cases of Korean 20-nail dystrophy
The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Poster 252 Patient Registry of Outcomes in Spasticity Care
The data suggests that dosing differences can help manage spasticity in patients with upper motor neuron dysfunction.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Cutaneous Focal Mucinosis: A Case Report
A rare skin condition in children can look like other diseases.
research 516 Dynein is involved in the movement, distribution, acidity, and transfer of melanosomes
Dynlt3 is important for melanosome transport and skin coloration.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research WRIST PAIN IN A GYMNAST WITH PRIMARY AMENORRHEA
The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Pyodermatitis vegetans associated with multiple myeloma
A skin condition called pyodermatitis vegetans was found in a patient with multiple myeloma for the first time.
research Tuberous sclerosis: Clinical findings in 57 patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
research Analysis of a multiple nuclear dots pattern in a large cohort of dermatological patients.
Anti-MND antibodies are present in various diseases, not just PBC, and their levels don't correlate with disease activity or skin symptoms.
research SAT-LB82 Myxedema as Presenting Feature of Profound Primary Hypothyroidism in a Toddler
A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.