research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
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420-450 / 1000+ results research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Searching for a Lead: Diagnosing a Rare Cause of Recurrent Intussusception
A trichobezoar caused the girl's recurrent intussusception, and surgery plus psychiatric therapy resolved her symptoms.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Pohl-Pinkus constrictions of hair following chemotherapy for Hodgkin's disease
Chemotherapy caused the patient's hair to have alternating thick and thin segments.
research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Dyad of infantile cutaneous and thymic Langerhans cell histiocytosis: Is it rare?
Thymic LCH may be underdiagnosed, so thymic ultrasound should be considered in infants with cutaneous LCH.
research Parry-Romberg Syndrome Vasculopathy and Its Treatment With Botulinum Toxin
Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
research Modified basic and specific (BASP) classification for pattern hair loss
The modified hair loss classification is more detailed but less user-friendly.
research Congenital Triangular Alopecia
Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
research Coexistence of bullous pemphigoid, intrahepatic cholangiocarcinoma, and alopecia areata: a case report of multifactorial autoimmunity in a surgical context
Bullous pemphigoid, intrahepatic cholangiocarcinoma, and alopecia areata may share immune-related causes.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Generalized hair follicle hamartoma associated with alopecia and myasthenia gravis: report of a second case*
A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
research A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"
A 4-year-old girl has a rare hair condition causing fragile, short hair.
research A RARE FORM OF SUPPURATING AND CICATRIZING DISEASE OF THE SCALP
A rare scalp disease causes hair loss, pus-filled nodules, and scarring.
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research Segmented heterochromia in scalp hair
Iron therapy cured the boy's hair color issue.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.