research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
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research Alopecia areata in childhood
Alopecia areata is relatively common in children, has a variable course, and shows different responses to treatment; thyroid testing is recommended for those affected.
research Hot topics in pediatric dermatology
Covers common skin issues in kids, their diagnosis, treatment, and need for specialist care.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
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 A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Extensive cerebral arteriovenous malformation presenting as a small cutaneous lesion on the forehead
A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.
research Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation
A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Unilateral Thalamic Infarction Associated with Rupture of Dissecting Posterior Cerebral Artery in Childhood-Onset Systemic Lupus Erythematosus: A Case Report
A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.
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 A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Diffuse alopecia of the scalp in borderline-lepromatous leprosy in an Indian patient
A neglected leprosy treatment led to rare scalp hair loss in an Indian woman, which improved with proper medication.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research 25-Year-Old Woman With New-Onset Seizures
A woman's new seizures were caused by a brain tumor likely linked to her past cancer treatment, and choosing safe seizure medications is important for women who can have children.
research Multimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies
Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
research Lipedematous alopecia with mucinosis: report of the first case in Taiwan
Taiwan reported its first case of a rare scalp condition with no clear cause or treatment.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Coexistence of a Basal Cell Carcinoma and Leiomyosarcoma
A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.
research Two parietal cephaloceles in a female neonate
A baby girl had two brain-related growths removed and is developing normally.