research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
Search
for
Sort by
Research
270-300 / 1000+ results
research Cystic panfolliculoma of the conchal bowl
Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.
research Bilateral Nevus Comedonicus of the Eyelids
A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research ODP423 Postmenopausal Virilization Secondary to A Rare Left Ovarian Androgen-Secreting Leydig Cell Tumor Localized Using Ovarian Vein Sampling
A woman's masculine symptoms were caused by a rare tumor in her left ovary, which was found using a special blood test.
research A Rare Case of Proliferating Trichilemmal Tumor Treated with Radiotherapy
Radiotherapy effectively treated a large scalp tumor in an elderly woman, avoiding surgery.
research Is Three-Dimensional Virtual Planning in Cranial Reconstruction for Advanced Cutaneous Squamous Cell Carcinoma of the Skull a Feasible Option?
3D virtual planning can help in precise skull reconstruction for advanced skin cancer, but patient-specific factors must be considered.
research A Virilizing Malignant Steroid Cell Tumor-Leydig Cell Subtype in a 24-Year-Old Palestinian Female with Challenging Histopathological and Biochemical Features: A Case Report
A young woman had a rare, aggressive ovarian tumor that was hard to diagnose and treat, leading to disease progression despite treatment.
research ODP537 A 1.6cm Androgen Secreting Ovarian Leydig Cell Tumor Evades Detection on Multiple Imaging Modalities
A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.
research Pathologic Quiz Case: A 69-Year-Old Man With a Brown-Black Facial Papule
A rare benign skin growth called melanocytic matricoma was identified in a 69-year-old man.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Spiny Hyperkeratotic Projections on the Face and Extremities of a Kidney Transplant Recipient—Quiz Case
A kidney transplant patient developed pink skin bumps with spiny centers on her face and limbs.
research Bilateral nevus comedonicus: efficacy of topical tacalcitol ointment
Tacalcitol ointment effectively improves bilateral nevus comedonicus.
research use of dermoscope to differentiate Pityrosporum folliculitis and Acne vulgaris
A dermoscope helps accurately tell apart Pityrosporum folliculitis and Acne vulgaris.
research Quisto matrical. Diagnósticos diferenciais.
The skin lesion was diagnosed as a matrical cyst with unusual features.
research Malignant appearance of trichilemmal cyst: a case report with review of the literature
A man's neck lump was a trichilemmal cyst, not cancer, and should be fully removed due to rare risk of becoming malignant.
research Surgical Management of Severe Cicatricial Ectropion Secondary to Pityriasis Rubra Pilaris.
Surgery can effectively treat severe eyelid turning out caused by a rare skin disorder.
research Scalp Medical Tattooing Technique to Camouflage Bifid Parietal Whorls
Scalp medical tattooing effectively camouflages bifid parietal whorls.
research A rare case of an androgen-producing stromal luteoma of the ovary in a postmenopausal woman, diagnosed by means of selective venous blood sampling
Doctors used a special blood sampling technique to diagnose a woman's rare ovarian tumor that was producing male hormones.
research OPIS PRZYPADKU RZADKIEGO SAMOTNEGO WŁÓKNISTEGO GUZA KOŚCI KRZYŻOWEJ
Pre-surgical embolization and a two-stage resection improve outcomes for rare sacral tumors.
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 Differential Expression and Analysis of TBX3 Gene in Skin Tissues of Dun Mongolian Horses with and Without Bider Markings
TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
research Periaortic venous necklace and renal right double arteries; Case report
The study found a unique vein pattern around the aorta and two arteries in the right kidney.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Importance of keen observation for the diagnosis of epidermal cysts: Dermoscopy can be a useful adjuvant tool
Dermoscopy helps accurately diagnose and treat epidermal cysts.
research Segmental Becker’s Nevi with Mucosal Involvement
A 16-year-old boy had a rare case of Becker's nevus on his face and mouth.
research ERRATUM
research Melanotrichoblastoma: A Histopathological Case Report of a Rare Pigmented Variant of Trichoblastoma
A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.