research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
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870-900 / 1000+ resultsresearch A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Extensive scleredema adultorum with loss of eccrine glands
A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
research An HIV-Infected Man with Odynophagia and Rash
The man's symptoms improved after treating his scurvy with high-dose vitamin C.
research LCL: (Locked Cheek Lift) Three-Dimensional Cheek Lift and Inferior Palpebral Rejuvenation
The Locked Cheek Lift is a simple, effective method for cheek and lower eyelid rejuvenation with a high success rate and minimal complications.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Scalp Porokeratosis: Dermoscopy's Key Role in Unmasking a Hidden Condition
Porokeratosis should be considered for scalp lesions, with new treatments like topical cholesterol/lovastatin offering promise.
research Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report
VKHD can include rare oral symptoms like discolored teeth.
research Coexistence of angiolymphoid hyperplasia with eosinophilia and pulmonary neoplasia
A man with both skin lesions and lung cancer improved quickly with chemotherapy, suggesting the skin condition might be a reaction to immune system injury.
research Rare Concurrence of Alopecia Areata in the Setting of the Lipedematous Scalp
A patient with a thick scalp and hair loss was correctly diagnosed with alopecia areata and a thick scalp fat layer, not lipedematous alopecia, and regrew hair after treatment.
research ACUTE ZINC DEPLETION SYNDROME DURING PARENTERAL HYPERALIMENTATION
A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research PREVALÊNCIA DE DISTÚRBIOS RESPIRATÓRIOS EM PACIENTES COM FISSURA LABIOPALATINA: REVISÃO SISTEMÁTICA
People with cleft lip and palate often have respiratory problems.
research Thyroid Disorders
The document concludes that thyroid disorders in children require specific treatments and monitoring, and educational resources are available for further information.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research SAT-127 Localization and Treatment of the Ectopic ACTH Syndrome Using Somatostatin Analogues
Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
research Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab
Dupilumab improves eczema in Netherton Syndrome but not ichthyosis linearis circumflexa.
research Esclerodermia localizada semelhante à morféia em um gato
A Persian cat had a rare skin condition that didn't improve with treatment.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.
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 Cardiac Amyloidosis and Aortic Stenosis: When to Consider it and How to Treat it?
When treating older patients with both heart valve disease and heart muscle disease, doctors should create personalized treatment plans that address both conditions.
research Dental considerations in acrodermatitis enteropathica: A report of two cases
Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research O-21 FROM ORAL LEVOTHYROXINE RESISTANCE TO INTRAVENOUS LEVOTHYROXINE HYPERSENSITIVITY: A CHALLENGING PRIMARY HYPOTHYROIDISM CASE
A woman with hypothyroidism developed an allergy to IV levothyroxine after being resistant to oral forms.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Bilateral morphea en coup de sabre: a rare presentationof linear morphea
A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.