research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
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research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Untersuchungen zur Ursache des generalisierten Haarausfalls bei jungen Kälbern
Severe diarrhea in young calves may cause hair loss.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Successful treatment of fungal ball‐associated tinea capitis in a healthy infant: An unusual presentation
Tinea capitis should be considered for scalp infections in infants.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Silicon-Related Syndrome in Dialysis Patients
Silicon may affect calcium metabolism in dialysis patients, causing symptoms like skin eruptions and abnormal hair growth.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia
A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
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.
research Halo Scalp Ring: An Annular Alopecia Associated with Birth Injury
A hairless patch on a boy's scalp from birth injury improved with minoxidil treatment.
research Hepatic Adenoma in an Adolescent With Elevated Androgen Levels
A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Mercedes Flap With Releasing Incisions for Scalp Defects
The new Mercedes flap variant effectively closed medium-sized scalp defects in a single operation with good cosmetic results and no complications.
research Halo scalp ring: an undiagnosed neonatal scalp alopecia
Halo Scalp Ring is a rare newborn hair loss that can be missed, and early diagnosis can avoid extra tests and worry for parents.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Does a picture of the human placenta predict the future?
The shape and size of the placenta may help predict future health risks for both mother and child.
research A Case of the Cons: How Contraception Confused Congenital Adrenal Hyperplasia for Conn
Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
research 17927 A pilot study of intrascalp platelet-rich plasma injections for hair loss in Nigerian patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research Don't miss this blue toe: Hair tourniquet syndrome
Early diagnosis of hair tourniquet syndrome saved a baby's toe from being lost.
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 Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects*
Patients with this syndrome can have different responses and worsening resistance to treatment over time.
research Vulvovaginite por estrutura óssea no canal vaginal de cadela castrada: Relato de caso
A spayed dog with vaginal bone structures causing infection was successfully treated by removing the bones and administering medication.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.