research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
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900-930 / 1000+ resultsresearch 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 Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research SAT-LB82 Myxedema as Presenting Feature of Profound Primary Hypothyroidism in a Toddler
A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research A Decade With Sheehan's Syndrome: A Case Report and Personal Experience.
Early diagnosis and management of Sheehan's syndrome are crucial for improving quality of life and fertility.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research THE IMPORTANCE OF TRANS-ESOPHAGEAL ECHOCARDIOGRAPHY IN DIAGNOSING LIBMAN-SACKS ENDOCARDITIS IN SYSTEMIC LUPUS ERYTHEMATOSUS: A CASE REPORT
Trans-esophageal echocardiography is crucial for accurately diagnosing heart issues in lupus patients.
research Acute Diffuse and Total Alopecia of the Female Scalp
A new type of sudden, complete female hair loss was found, with most patients fully recovering within 6 months without needing steroid treatment.
research A Filipino with Systemic Lupus Erythematosus-Scleroderma Overlap Syndrome
Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research (16) The Graham-Little syndrome Follicular keratosis with cicatricial alopecia
Graham-Little syndrome causes scarring hair loss and skin bumps.
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 Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
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 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Phenotypic Analysis of T-Cells in Extensive Alopecia Areata Scalp Suggests Partial Tolerance
T-cells in alopecia areata scalp show abnormal regulation, leading to less inflammation.
research Tuberculosis mimicking the onset of systemic lupus erythematosus flare: Case based review
TB can mimic SLE symptoms, so doctors should consider TB in such cases.