research A Filipino with Systemic Lupus Erythematosus-Scleroderma Overlap Syndrome
Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
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300-330 / 1000+ results research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research A Hairy Paradox: Congenital Triangular Alopecia with a Central Hair Tuft
Some people with congenital triangular alopecia have a central tuft of hair in the bald patch, but the cause is unknown.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Bilateral madarosis due to papular mucinosis
Papular mucinosis can cause eyebrow hair loss, but treatment can lead to regrowth.
research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research Hair tourniquet syndrome: revisited
Hair tourniquet syndrome can cause serious harm if not treated quickly, especially in infants.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research Incidence of trichostasis spinulosa at a single institution in Yemen
Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Hypopigmented facial lesions: a case of eruptive tumor of follicular infundibulum
Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
research Left Anterior Descendent Coronary Artery Fistula to Main Pulmonary Artery with Triple Vessel Disease:A Report of Two Cases
Two patients with heart issues had successful surgeries and improved symptoms.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Tamoxifen-associated hirsutism: an unusual side effect in a 5-year-old girl with McCune-Albright syndrome
A 5-year-old girl with McCune-Albright syndrome grew abnormal hair due to the drug tamoxifen.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Bilateral ovarian steroid cell tumor in a postmenopausal woman with progressive hyperandrogenism
Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.
research Multiple perifollicular fibromas: report of a case and analysis of the literature
Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Coexistence of Woolly Hair and Monilethrix: A Cases Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Rapunzel syndrome: a rare form of trichobezoar in the stomach with some extension into the small intestine
An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
research Severe cardiac conduction abnormalities associated with atypical toxic shock syndrome
A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.