research Graham-Little Piccardi Lassueur Syndrome and review of the literature
Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
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60-90 / 1000+ resultsresearch Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Lucio Phenomenon mimicking with Vasculo necrotic Erithema Nodosum Leprosum: A Case Report
A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association
Lichen planopilaris can occur with multiple autoimmune diseases.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Systemic Lupus Erythematosus With Acute Inflammatory Demyelinating Polyneuropathy: A Case Report and Review of the Literature
A woman with lupus and severe nerve damage improved with specific treatments.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research Autoimmune Polyglandular Syndrome Type 3-D
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research Persistent Papular Plaques on the Face
Persistent papular plaques on children's faces need better understanding and treatment.
research P44 The presentation of systemic erythematous lupus with Kikuchi-Fujimoto disease
A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Atypical Presentation of Systemic Lupus Erythematous with Vasculitic Polyneuropathy
A rare form of lupus can cause severe nerve damage and other symptoms, but treatment can help.
research Generalized maculopapular rash and fever
The man was diagnosed with lupus and improved with treatment.
research Clinical, Dermoscopic and In-Vivo Reflectance Confocal Microscopy Evaluation of a Case of Graham Little-Piccardi-Lassueur Syndrome Successfully Treated with Narrowband-UVB Phototherapy
Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Immunofluorescent findings and clinical overlap in two cases of follicular lichen planus
GLPLS and LPP are variants of lichen planus.
research Tinea Faciale and Lupus Erythematosus
Tinea faciale can be mistaken for lupus due to similar symptoms.
research Graham Little–Piccardi–Lassueur syndrome in a patient with androgen insensitivity syndrome
research LP-155 Psychosis as an early manifestation of neuropsychiatric systemic lupus erythematosus – a case report
Psychosis can be an early sign of neuropsychiatric lupus, treatable with tailored medication.
research A RARE PRESENTATION OF AN OVERLAP CONNECTIVITY AS PURPURA FULMINANS: A CASE REPORT
Purpura fulminans can signal underlying autoimmune disorders, not just infections.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.