research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
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810-840 / 1000+ results research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Short anagen hair syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research 8273 ACTH-Dependent Cushing's Syndrome due to Metastatic Cervical Cancer: A Case Report
Metastatic cervical cancer can cause rare, severe Cushing's syndrome with high risk of death.
research Severity of hair loss and quality of life for patients with central centrifugal cicatricial alopecia
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research LUPUS VASCULITIS
A woman with Lupus Vasculitis improved after treatment with steroids and other medications.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Latent polyglandular autoimmune syndrome type 2 case diagnosed during a shock manifestation
A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Acquired silky African hair, malnutrition, and chronic diseases
research Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review
Polycystic Ovary Syndrome (PCOS) is common in women with conditions like anovulation, hirsutism, hair loss, and type 2 diabetes, and it can lead to health risks like heart disease, obesity, insulin resistance, and depression. Non-Classic Congenital Adrenal Hyperplasia (NC-CAH) is also discussed.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Subclinical Atherosclerosis in Alopecia Areata: Usefulness of Arterial Ultrasound for Disease Diagnosis and Analysis of Its Relationship with Cardiometabolic Parameters
Alopecia areata patients have a higher risk of subclinical atherosclerosis, and carotid ultrasound can help assess their cardiovascular risk.
research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Clinical features of 109 patients with primary cicatricial alopecia: a 15-year retrospective study
Primary cicatricial alopecia causes permanent hair loss by destroying hair follicles, and its exact cause is unknown.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Vogt-Koyanagi-Harada Disease in which Poliosis and Alopecia Occurred after a Long Period of Time.
A man with a rare disease experienced late hair whitening and loss, but hair color returned, suggesting a good outlook.
research Hyperactivity and alopecia associated with ingestion of valproic acid in a cat
A cat's hyperactivity and hair loss were caused by eating valproic acid but improved after stopping access to the drug.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Acquired loss of hair pigment associated with a flexural dermatosis
research Vogt-Koyanagi-Harada disease occurring during pegylated interferon-α2b and ribavirin combination therapy for chronic hepatitis C
Vogt-Koyanagi-Harada disease can develop during interferon therapy for chronic hepatitis C.
research Neurological presentation of psittacosis during a small outbreak in Leicestershire.
A woman showed neurological symptoms from psittacosis linked to bird exposure, improving after antibiotic treatment.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Central centrifugal cicatricial alopecia: challenges and solutions
The document concludes that better treatments for CCCA are needed and more research is required to understand its causes related to hairstyling and genetics.
research A comedonal variant of chronic cutaneous lupus erythematosus: Case report and literature review
Chronic cutaneous lupus erythematosus causes scarring, hair loss, and skin discoloration, especially on sun-exposed areas.