research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
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research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research Alopecia Areata in a Patient Undergoing Treatment for Secondary Syphilis: A Diagnostic Challenge
Trichoscopy helps correctly diagnose alopecia areata, not syphilitic alopecia, in patients with recent syphilis.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research Congenital Hypotrichosis in a White-Tailed Deer Fawn from South Dakota
A deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Trichoscopy in genetic hair shaft abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research Ocular manifestation in progeria: A case report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research A retrospective review of paediatric alopecia areata cases seen in a tertiary institution in Singapore
Most children with alopecia areata improved with treatment, but those with more hair loss had worse outcomes.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Alopecia areata incognito: an elusive disease
Accurate diagnosis of alopecia areata incognito requires trichoscopy and histopathology.
research Microscopic polyangiitis secondary to Mycobacterium abscessus in a patient with bronchiectasis: a case report
A 70-year-old woman with bronchiectasis developed a rare immune disease due to a bacterial infection, requiring a difficult balance of treatments.
research Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Acquired and inheritedhair disorders
Hair disorders can be genetic or acquired, affecting hair growth and loss differently.
research Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research Features of the immune status and comorbidities in children with alopecia areata
Children with alopecia areata have immune imbalances and are more likely to have certain health issues.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Alopecia areata: Clinical presentation, diagnosis, and unusual cases
Alopecia areata is a type of hair loss that can lead to complete baldness, often associated with other autoimmune conditions, and half of the cases may see hair return within a year.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Association Between Interleukin 18 Polymorphisms and Alopecia Areata in Koreans
Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.