research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
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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 Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research Psychosis as a late manifestation of Sheehan’s syndrome
Sheehan's syndrome can sometimes cause psychosis.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research 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 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 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 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 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 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 [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
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 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 Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research [The Netherton syndrome with alopecia and prolinuria].
Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
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 Prevention of Frey syndrome with superficial temporal fascia interpositioning: a retrospective study
Using superficial temporal fascia helps prevent Frey syndrome after parotid surgery.
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 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 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 “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 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 Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Trimethoprim-induced aseptic meningitis
Certain medications, like trimethoprim, can cause aseptic meningitis, especially in people with autoimmune conditions.