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690-720 / 1000+ resultsresearch KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research Scarring Alopecia in a 66‐Year‐Old Woman
A rare autoimmune disease caused the woman's scalp blisters and hair loss, successfully treated with medication.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Disseminated Nonsegmental Vitiligo Associated With Halo Nevi and Premature Gray Hair
A rare combination of halo nevi, nonsegmental vitiligo, and early gray hair can occur together.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Mucin‐poor follicular mycosis fungoides
The patient's symptoms improved with treatment but recurred when the steroid dose was reduced, requiring ongoing therapy.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Erosive pustular dermatosis of the scalp due to EGFR inhibitors: A multicentric study by EADV task force of ‘Dermatology for Cancer Patients’
Erosive pustular dermatosis of the scalp can occur about 17 weeks after starting EGFR inhibitors, and early minocycline may help manage it.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Prevention of Frey syndrome with superficial temporal fascia interpositioning: a retrospective study
Using superficial temporal fascia helps prevent Frey syndrome after parotid surgery.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research P23 A case of visceral leishmaniasis presenting as seropositive erosive rheumatoid arthritis in an immunocompromised patient
Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
research Traumatic panniculitis with localized hypertrichosis: Two new cases and considerations
Traumatic panniculitis can cause increased hair growth in affected areas.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Sheehan Syndrome Leading to Acute Systolic and Diastolic Heart Failure: A Case Report
Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research “Prick or treat”: a case of systemic reaction during intradermal tests with beta-lactams
Longer treatment with vismodegib lowers relapse risk in basal cell carcinoma.
research Trimethoprim-induced aseptic meningitis
Certain medications, like trimethoprim, can cause aseptic meningitis, especially in people with autoimmune conditions.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Mucinosis folicular. Reporte de un caso pediátrico
Follicular mucinosis in a 15-year-old is usually harmless but needs monitoring for possible lymphoma.