research Viral-Associated Trichodysplasia of Immunosuppression
A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
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research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Tangled
A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Pruritic Trichostasis Spinulosa: A Rare Variant
A rare hair follicle disorder can cause itchy, bluish-black bumps on the body.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research ТУБЕРОЗНЫЙ СКЛЕРОЗ (БУРНЕВИЛЛЯ-ПРИНГЛА). ОБЗОР ЛИТЕРАТУРЫ
Early diagnosis, genetic testing, and personalized care are essential for managing tuberous sclerosis.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.