research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
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900-930 / 1000+ resultsresearch Symptoms: Pruritic Skin Lesions
The woman has Discoid Lupus Erythematosus and needs specialist care.
research Abdominal Pain in a Young Woman With Systemic Lupus Erythematosus
A young woman with lupus was treated with hydroxychloroquine and prednisone.
research IMAGING INSIGHTS INTO JC VIRUS-ASSOCIATED PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN NEUROPSYCHIATRIC LUPUS: A CASE REPORT
Careful monitoring is crucial to prevent JC virus reactivation in lupus patients treated with rituximab.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome
Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
research Pediatric Systemic Lupus Erythematosus
Early and aggressive treatment with individualized care plans is crucial for managing pediatric systemic lupus erythematosus.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Calcinosis Cutis in a Patient With Systemic Lupus Erythematosus: A Case Report
Early diagnosis and treatment of calcinosis cutis in lupus patients is crucial due to its rarity and potential complications.
research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research Dapsone-induced erythroderma with Beau's lines
A woman with leprosy improved after stopping dapsone and getting treatment for a severe skin reaction and nail changes.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research SnapshotDx Quiz: November 2017
Pemphigus vulgaris involves specific immune cells and B cells that produce antibodies causing skin blisters.
research Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis
A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research A current review of the cutaneous manifestations of renal disease
Skin problems are very common in people with end-stage kidney disease.
research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
research 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research A case report of verruca vulgaris on basis of alopecia areata successfully treated with diphenylcyclopropenone
Diphenylcyclopropenone (DPCP) effectively treated both alopecia areata and verruca vulgaris.
research 129 Utilizing Polygenic score in predicting the disease activity and arthritis in psoriasis patients
Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
research Anti-DFS70 sebagai Penanda Kejadian Autoimun Nonsistemik (Primary Billiar Cholangitis) pada Systemic Lupus Erythematosus
Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
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 [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Extensive cicatricial alopecia in a patient with long‐term trichotillomania
Early treatment of hair-pulling disorder is crucial to prevent permanent hair loss and scarring.
research PLA2R1 Overexpression Causes Podocyte Injury by Inhibiting the Cell Cycle: A Clinical Cross-Sectional Investigation and Cellular Study
PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
research Pretibial Myxedema with Graves' Disease: A Case Report and Review of Japanese Literature
Pretibial myxedema can occur with Graves' disease, showing skin changes like waxy plaques and swelling.