research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
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660-690 / 1000+ resultsresearch Nevoid basal cell carcinoma syndrome. Some histologic observations on the cutaneous lesions
Nevoid basal cell carcinomas start in the skin's top layer and hair follicles.
research Dermoscopy of lymphoplasmacellular erosive dermatitis of the scalp reveals striking similarities to lymphoplasmacellular balanitis of Zoon
Scalp skin condition LEDS has similar features to Zoon's balanitis, a mucosal skin disorder.
research Frontal fibrosing alopecia associated with lichen planus pigmentosum
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Linear morphea alopecia: New trichoscopy findings
Trichoscopy can reveal specific hair and scalp changes in linear morphea.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Clinical, Microscopic and Ultrastructural Findings in a Case of Short Anagen Syndrome
The study found that Short Anagen Syndrome results in short hair growth not due to hair fragility, and hair may grow longer after puberty.
research Recurrent pruritic polymorphic lesions associated with weight loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Scalp biopsy identifies systemic amyloidosis presenting as isolated telogen effluvium: A case report
A scalp biopsy revealed systemic amyloidosis in a woman who initially seemed to have a common hair loss condition.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research GREASY SCALING PITYRIASIS AMIANTACEA AND ALOPECIA: A SYNDROME IN SEARCH OF A CAUSE
The cause of the syndrome with scalp scaling and hair loss is unknown.
research Multiple ulcerative plaques on the folds
Ulcerative sarcoidosis in body folds is rare and improved with prednisone and hydroxychloroquine.
research Rapunzel Syndrome in a Pediatric Female Patient: A Case Report of Trichobezoar Causing Intestinal Obstruction
Recognize Rapunzel syndrome in children with unexplained stomach issues for timely treatment.
research Clinicopathologic lessons in distinguishing cicatricial alopecia: 7 Cases of lichen planopilaris misdiagnosed as discoid lupus
Seven patients were misdiagnosed with discoid lupus instead of lichen planopilaris due to similar symptoms, showing the need for careful diagnosis in scarring hair loss conditions.
research The Case Files
A 65-year-old man with sudden abdominal pain and seizures was diagnosed with a rare, non-traumatic splenic rupture and treated without surgery.
research Mixed-pattern, essential syphilitic alopecia, uveitis, and papillitis in an immunocompetent patient with neurosyphilis
Syphilis treatment resolved hair loss and eye symptoms, highlighting its importance in diagnosing unusual alopecia.
research SAT-127 Localization and Treatment of the Ectopic ACTH Syndrome Using Somatostatin Analogues
Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
research AM UNUSUAL PRESENTATION OF PILOMATRIXOMA
A painless cheek lump was misdiagnosed but found to be a rare, benign skin lesion called pilomatrixoma, treatable by surgery.