research Clinics in diagnostic imaging (221)
A bladder rupture from prostate treatment was healed with catheterization and antibiotics.
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research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Acquired ocular toxoplasmosis in pregnancy
Surgical excision is the best treatment for SCC, but intralesional cidofovir might be a good alternative.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Polycystic Ovary Syndrome in Childhood: Diagnostic and Therapeutic Challenges
Diagnosing and treating PCOS in young people is difficult.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Basal Cell Carcinoma With Matrical Differentiation: Expression of .-catenin and Osteopontin
Basal cell carcinoma with matrical differentiation is a rare type linked to hair follicles, with .-catenin important for its development.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research SUN-380 A Case of Cushing Syndrome
A woman with Cushing's syndrome improved after surgery to remove an adrenal tumor.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research A case of localized follicular hamartoma: an ultrastructural and immunohistochemical study
The hamartoma is an abnormal hair growth with limited development in the upper hair follicle.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research [Cushing syndrome during pregnancy. New diagnostic methods used in 3 cases of adrenal cortex carcinoma].
Early detection of Cushing's syndrome during pregnancy is crucial to prevent severe complications.
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Prevalence of Polycystic Ovary Syndrome in Nigerian Women with Infertility: A Prospective Study of the Three Assessment Criteria
A significant number of Nigerian women struggling with infertility have Polycystic Ovary Syndrome, with the exact percentage varying based on the diagnostic criteria used.
research Nevus comedonicus with lesional growth of terminal hair: An unusual case
Nevus comedonicus can sometimes grow terminal hair, challenging previous beliefs.
research Clinical features of 109 patients with primary cicatricial alopecia: a 15-year retrospective study
Primary cicatricial alopecia causes permanent hair loss by destroying hair follicles, and its exact cause is unknown.
research Prevalence of polycystic ovary syndrome in unselected women from southern China
Many women in southern China have polycystic ovary syndrome, with some symptoms differing from Western women.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Clinical features and presentation of polycystic ovary syndrome
PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
research Clinical and Demographic Characteristics of Patients Diagnosed with Polycystic Ovary Syndrome: A Cross-Sectional Observational Study
PCOS is common in women, often treated with lifestyle changes and oral contraceptives.
research Case of alopecia universalis accompanied by minimal change nephrotic syndrome
A possible link exists between minimal change nephrotic syndrome and complete hair loss.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.