research Tricholemmoma and tricholemmal carcinoma and Cowden syndrome
Tricholemmoma is linked to Cowden syndrome and can be benign or malignant.
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research An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.
research Huge Proliferating Trichilemmal Tumors of the Scalp: Report of Six Cases
Complete removal of scalp tumors is crucial, but malignant cases may recur or metastasize, requiring a multidisciplinary approach and close follow-up.
research Characteristic analysis of sebaceous nevus using dermoscopy and reflectance confocal microscopy
Sebaceous nevus changes with age, and dermoscopy and RCM are effective for diagnosis.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Dermoscopy of a Congenital Pigmented Lesion: A Case of Supernumerary Nipple
A supernumerary nipple was correctly identified using dermoscopy, avoiding misdiagnosis.
research Exceptional Clinical Response to Surgery in Somalian Child Affected by Hyper Secretive Adrenal Cortical Carcinoma
The 6-year-old Somalian girl fully recovered from her symptoms after successful surgery and treatment.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Alopecic and Aseptic Nodules of the Scalp/Pseudocyst of the Scalp: Clinicopathological and Therapeutic Analyses in 11 Korean Patients
The research provided insights into the presentation and management of alopecic and aseptic nodules of the scalp.
research Tinea capitis: no incision nor excision
Surgery is not the right treatment for a fungal scalp infection; proper medical treatment is needed.
research A Pedunculated Follicular Hamartoma: A Case Showing a Central Trichofolliculoma‐like Tumor with Multiple Trichogenic Tumors
The tumor on the man's nose was a rare type called pedunculated follicular hamartoma.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Winer's dilated pore, rare presentation in the external ear canal
Accurate diagnosis of Winer's dilated pore in the ear is crucial to avoid unnecessary aggressive treatment.
research Radiation cystitis in acute admissions for haematuria
Radiation cystitis patients need better monitoring and early treatment due to higher readmission rates.
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 Decision letter: Interplay of opposing fate choices stalls oncogenic growth in murine skin epithelium
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
research Trichosporon asteroides: A novel ethiological agent of Kerion celsi in a child
A child's scalp infection was caused by a fungus not previously known to do so, but it was successfully treated.
research Disruption of tubular Flcn expression as a mouse model for renal tumor induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Limited stage small cell lung cancer
Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report
This case report describes an extremely rare instance of seminoma in a 33-year-old phenotypic female with SRY-negative 46,XX testicular disorder of sex development (DSD), presenting uniquely as acute abdomen due to gonadal torsion. The patient exhibited ambiguous genitalia, primary amenorrhea, and male-pattern androgenic alopecia. Emergency surgery revealed a seminoma in the right gonad, confirmed by pathology and chromosomal analysis showing a 46,XX karyotype without SRY or Y-chromosome sequences. This case underscores the importance of considering DSD in adults with atypical genitalia and primary amenorrhea, necessitating comprehensive karyotype and pathological evaluations. A multidisciplinary approach is essential for managing such rare presentations to address oncologic, endocrine, and psychological needs effectively.
research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
research Modeling of chronic radiation-induced cystitis in mice
Researchers developed a mouse model that successfully mimics the bladder damage seen in humans after radiation therapy.
research Expression patterns of hair and epithelial keratins and transcription factors HOXC13, LEF1, and β‐catenin in a malignant pilomatricoma: a histological and immunohistochemical study
The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
research 8273 ACTH-Dependent Cushing's Syndrome Due To Metastatic Cervical Cancer: A Case Report
ACTH-dependent Cushing's syndrome linked to metastatic cervical cancer is rare and has high risks.
research Adrenocortical tumor in 20 months old female
A 20-month-old girl had a rare adrenal tumor removed successfully, with no recurrence for 10 years.