research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
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810-840 / 1000+ results research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Identification of Somatic KRAS Mutation in a Korean Baby with Nevus Sebaceus Syndrome
A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma
Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
research “Case Report : Early Congenital Syphilis”
Early diagnosis and treatment are crucial to prevent severe outcomes in congenital syphilis.
research Simultaneous HBV Reactivation and Hair Discoloration Under Secukinumab Treatment.
Secukinumab treatment may cause HBV reactivation and hair discoloration.
research Pediatric Dermatology Photoquiz: A 14-Year-Old Boy with Abrupt-Onset Hair Changes
A 14-year-old boy was diagnosed with a rare hair condition that may lead to hair thinning and has no known effective treatments.
research Abstract 10845: Spontaneous Coronary Artery Dissection as the Primary Presentation of Ana-Negative Lupus
SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
research P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Linear lupus panniculitis of the scalp presenting as alopecia along Blaschko’s lines: A distinct variant of lupus panniculitis in East Asians?
A unique type of lupus panniculitis causes reversible hair loss on the scalp in East Asians.
research Hyperadrenocorticism Induces Demodicosis in Shih Tzu Dog
A Shih Tzu with Cushing syndrome developed skin issues and was euthanized after treatment led to neurological problems.
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
research Association of Anti-Signal Recognition Particle Myopathy with Systemic Lupus Erythematosus
Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
research Functional histopathology of keloid disease.
Keloid scars are aggressive, excessive skin scars with unique features and complex diagnosis.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Keratin 6A promotes skin inflammation through JAK1-STAT3 activation in keratinocytes
Keratin 6A increases skin inflammation, suggesting it could be a target for treating certain skin diseases.
research G338(P) Dermatological manifestations in children with chronic kidney disease in a tertiary care center: a case-control study
Children with chronic kidney disease often have skin, hair, and nail problems.
research Juvenile systemic lupus erythematosus presenting only as nonscarring alopecia
A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research A fast-growing skin lesion in a dialysis patient
A benign skin tumor grew quickly in a dialysis patient and was surgically removed.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.