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.
Search
for
Sort by
Research
420-450 / 1000+ results research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research LAM/TSC Cell Migration to Uterus in an Experimental Model of Lymphangioleiomyomatosis. Regulation by Anti-Epidermal Growth Factor Receptor Antibody and Rapamycin
Rapamycin and anti-EGFR antibody reduce LAM/TSC cell migration and blood vessel growth in the uterus.
research The diagnosis and management of haematospermia
Haematospermia is usually harmless but needs careful checking to ease anxiety and find any serious causes.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Temporary radiation-induced alopecia after embolization of a cerebral arteriovenous malformation
Temporary hair loss can occur after brain AVM treatment but usually regrows in 8 weeks.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research An unusual presentation of pilomatrixoma
A painless cheek lump was misdiagnosed but later identified as a rare benign skin lesion called pilomatrixoma.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research Undifferentiated connective tissue disease presenting with vascular pattern of renal amyloidosis with carpel tunnel syndrome: A case report
A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
research Additional Intraoperative Autologous-Derived Platelet-Rich Stroma to Transanal Flap Repair for the Treatment of Cryptoglandular Transsphincteric Fistulas in a Tertiary Referral Center: Long-Term Outcomes of a Prospective Pilot Study
Combining PRS with TAFR is promising for treating complex fistulas, with most patients achieving long-term healing.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Pilomatricoma in the Infraorbital Region
Pilomatricoma is a rare, harmless skin lump that needs accurate diagnosis and timely treatment.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Cthrc1 deficiency aggravates wound healing and promotes cardiac rupture after myocardial infarction via non-canonical WNT5A signaling pathway
CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.