research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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720-750 / 1000+ resultsresearch Scalp Sarcoidosis with Systemic Involvement: A Case Report and Literature Review
Scalp sarcoidosis can cause hair loss and needs accurate diagnosis and treatment with specific medications.
research Cavitating Osmotic Demyelination Syndrome Following Correction of Chronic Hyponatremia in Sheehan’s Syndrome: A Novel Case Report
Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
research Madarosis and facial keratinaceous spines
Reducing immunosuppression and using antiviral creams improved the woman's skin condition.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research An atypical clinical presentation of alopecia in 2 patients with systemic lupus erythematosus
Two patients with lupus had an unusual type of hair loss not typical for the disease but improved with treatment.
research BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?
Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
research Acute pancreatitis: An unusual presentation of systemic lupus erythematosus
Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research The fretful child with swollen appendage: Mitten the Insidious
A child's toe was saved from a rare condition where hair tightly wrapped around it by performing surgery.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research Systemic lupus erythematosus (SLE) in the eastern region of Saudi Arabia. A comparative study
SLE patients in eastern Saudi Arabia have a generally good prognosis despite multi-organ involvement.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Chronic Lupus Erythematosus and Systemic Scleroderma Coexistent at the Same Patient
A patient had both chronic lupus and systemic scleroderma, requiring careful treatment to manage symptoms.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research 1340 低熱セメントを用いた高強度コンクリート実大施工実験 : その4 硬化コンクリートの性状
Evaluate prolactin levels with androgen and thyroid tests to rule out endocrine issues in patients with SAHA syndrome symptoms.
research A Case of 300 Pound Weight Loss, Malabsorption, Malnutrition and Protein Losing Enteropathy Due to Systemic Lupus Erythematosis of the Small Intestine
Recognizing lupus as a cause of severe gut issues is crucial for effective treatment.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Bilateral Periorbital Erythema and Swelling as an Initial Presentation of Systemic Lupus Erythematosus: A Rare Case
Recognizing unusual symptoms can lead to early diagnosis and effective treatment of systemic lupus erythematosus.
research Histological and dermatoscopic description of sphynx cat skin
Sphynx cats have abnormal hair follicles and keratinization affecting their skin.
research A 3-Year-Old Girl with Thin Hair
The girl's thin hair was due to loose anagen syndrome, not other hair loss types.
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 Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.