research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
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research PMON325 Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez–López-Hernández syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Tourniquet syndrome: Interest of a systematic analysis of families’ social conditions to detect neglect situations
Checking family social conditions in tourniquet syndrome cases can help find neglect.
research Pediatric Systemic Lupus Erythematosus: More Than a Positive Antinuclear Antibody
Pediatric systemic lupus erythematosus is a severe autoimmune disease in children requiring early diagnosis and comprehensive management.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
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 Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Hyperthyroidism
Graves disease is the main cause of hyperthyroidism in kids, especially girls aged 11-15, and requires lifelong follow-up.
research Treatment of Short Anagen Syndrome With Low‐Dose Oral Minoxidil
Low-dose oral minoxidil may help children with short anagen syndrome grow longer hair.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Pediatric Sjögren’s Syndrome: Focus on Ocular Involvement and Diagnostic Challenges
Early diagnosis using eye tests and lab markers can improve treatment for pediatric Sjögren's syndrome.
research Visual Diagnosis: The Case of the Balding Preschooler
A 4-year-old girl with hair loss was diagnosed with early-onset trichotillomania and improved with behavioral interventions.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Prevalence and pattern of skin disorders among children living in orphanages in Fayoum and Giza governorates, Egypt
Most children in orphanages in Fayoum and Giza have skin disorders, mainly noninfectious, and need better hygiene and emotional care.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Hyperpigmentation in a child as a clue to chikungunya
Chikungunya can cause hyperpigmentation in children and should be considered in diagnosis.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research Supplementary Material for: A Silvery Hair Revolution: Case Report of Marie Antoinette syndrome in a child
Stress can cause sudden hair whitening in children, but it may reverse on its own.
research Alopezien und Hypotrichosen im Kindesalter
Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.