research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
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900-930 / 1000+ results research Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research Cicatricial alopecia secondary to neglected favus in a young Kashmiri female: An uncommon occurrence with clinical-dermoscopic correlation
Early diagnosis and treatment of favus can prevent permanent hair loss.
research Nevus comedonicus
Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Trichilemmal cyst of the eyelid: An unusual presentation in paediatric age group
Trichilemmal cysts can appear on children's eyelids and may be mistaken for other conditions.
research A 14-Year-Old Boy with Lower Extremity Swelling and Petechial Rash
The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research sQuiz your knowledge! Anogenital and distal erythema, alopecia, and diarrhoea
CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
research The use of dermoscopy in a case of nevus sebaceous misdiagnosed and treated as cicatricial alopecia
Dermoscopy helped correctly diagnose a skin condition that was previously misidentified as a different hair loss disease.
research Early Onset of Central Centrifugal Cicatricial Alopecia (CCCA) in Pediatric Patients: An Underrecognized Diagnosis
CCCA can occur in children and needs early diagnosis to prevent permanent hair loss.
research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Fetal Arrhythmia with a Myriad of Complications
Early diagnosis and management of congenital heart block in mothers with autoimmune conditions are crucial for improving neonatal outcomes.
research Curly Hair: A Rare Side Effect of Sodium Valproate in a Child
Sodium valproate can rarely cause curly hair in children.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
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 Congenital milia En plaque on scalp
A rare skin condition with cysts was found on a 5-year-old boy's scalp.
research Galea Fixation in Alopecia Reduction Surgery
Galea fixation is a safe and effective way to remove bald scalp with minimal scarring and reduced stretch-back.
research Alopecia areata - probing the deforestation
The document concludes that doctors should recognize congenital triangular alopecia to avoid unnecessary treatments, as it does not respond to steroids like alopecia areata does.
research Progressive Motor Regression in a 3-Year-Old: Dietary Trends Revive an Overlooked Diagnosis
The girl's motor issues were due to scurvy from a lack of vitamin C, which improved with supplements.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.