February 2026 in “American Journal of Case Reports” AS-OCT is crucial for diagnosing VZV interstitial keratitis and avoiding unnecessary treatments.
25 citations
,
March 2008 in “Surgical Neurology” New techniques for treating scalp blood vessel malformations are effective and can have good cosmetic results.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
April 2017 in “Journal of Investigative Dermatology” Dermal lymphatic vessels help hair growth by affecting hair cycle phases.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
2 citations
,
August 2002 in “British Journal of Ophthalmology” Tangent screens help detect visual field defects from vigabatrin.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
1 citations
,
July 2024 in “International Journal of Biological Research” Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
21 citations
,
August 2002 in “British Journal of Ophthalmology” Intralesional cidofovir may be a viable alternative treatment for SCC.
1 citations
,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
4 citations
,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
7 citations
,
June 2022 in “Frontiers in Medicine” ADSC-derived extracellular vesicles show promise for skin and hair regeneration and wound healing.
September 2023 in “Acta dermato-venereologica” Pilonidal sinus disease is linked to more severe hidradenitis suppurativa.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
30 citations
,
May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
VDAC2 promotes cell death in cashmere goat hair follicles through the P53 pathway.
July 2021 in “Scholars Journal of Medical Case Reports” Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
17 citations
,
January 2011 in “The Korean Journal of Hepatology” Vogt-Koyanagi-Harada disease can develop during interferon therapy for chronic hepatitis C.
9 citations
,
January 2015 in “Indian Dermatology Online Journal” Early diagnosis and treatment of Kaposi varicelliform eruption are crucial to prevent severe complications.
April 2016 in “Plastic and reconstructive surgery. Global open” Surgery may help infants with sagittal craniosynostosis develop more typical language processing.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
9 citations
,
January 2022 in “Biology” Male mice are more susceptible to autism-like changes from valproic acid than female mice.