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.
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270-300 / 1000+ resultsresearch Remission in Cushing disease with cabergoline
Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research Metastatic Embryonal Cell Carcinoma with High Testosterone and Absence of Secondary Sexual Characteristics
Treatment restored normal sexual characteristics and blood condition in a patient with testicular cancer.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Cronkhite–Canada Syndrome Diagnosis in the Absence of Gastrointestinal Polyps
Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Clinical and trichoscopic characteristics of temporal triangular alopecia: A multicenter study
Temporal triangular alopecia is a non-scarring hair loss in children, often linked to other health conditions.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Trichotillomania
Trichotillomania is a chronic hair-pulling disorder, more common in females, treated with therapy and sometimes medication.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases
Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
research Cytokeratin expression in trichoblastic fibroma (small nodular type trichoblastoma), trichoepithelioma and basal cell carcinoma
Trichoblastic fibroma and basal cell carcinoma are similar but different from trichoepithelioma.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Abstracts of 28th Year Annual Meeting of Turkish Society of Neuroradiology with International Participation, Conrad Istanbul Bosphorus, Istanbul, Turkey, February 15-17, 2019
MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research SAT-560 Real or Not Real? An Elevated TSH
Recognizing macro-TSH is crucial to avoid unnecessary treatments.
research Two Clinically Unusual Cases of Folliculotropic Mycosis Fungoides: One with and the Other without Syringotropism
Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
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.