January 1982 in “Japanese Journal of Clinical Immunology” Soft-tissue calcification is rare in systemic lupus erythematosus.
36 citations
,
July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 15 citations
,
June 2015 in “Journal of Craniofacial Surgery” Early surgical removal of scalp hemangiomas leads to good scarring and hair growth.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
January 2007 in “Más dermatología” Gentle hair care and some medications can help manage hair shaft disorders, but no specific treatment exists for congenital issues.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
73 citations
,
January 1997 in “British Journal of Ophthalmology” The coronal approach is effective and safe for reducing eye bulging in Graves' eye disease.
9 citations
,
February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
26 citations
,
July 2006 in “Current Opinion in Otolaryngology & Head and Neck Surgery” New techniques in scalp reconstruction have improved cosmetic results and reduced complications, especially for large defects.
3 citations
,
February 2021 in “Pediatric rheumatology online journal” A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
The treatment improved facial structure and corrected bite issues in patients.
November 2017 in “International journal of research in dermatology” A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
March 2024 in “Arquivos de Ciências da Saúde da UNIPAR” Onyx® embolization effectively treats facial arteriovenous malformations with minimal complications.
14 citations
,
July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
8 citations
,
March 2009 in “Aesthetic Plastic Surgery” The "flying-wings" scalp flap technique is a simple, safe, and effective way to reconstruct large areas of scalp loss in children.
22 citations
,
May 2007 in “Molecular Biotechnology”
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
4 citations
,
February 2001 in “PubMed” A medication called sodium valproate likely caused a girl's hair to become kinky and dry.
Calcipotriene ointment improved a child's skin condition known as En coup de sabre.
January 2022 in “Bio web of conferences/BIO web of conferences” The conclusion is that normal trace element levels in newborn calves' hair are between the 25th and 75th percentiles, and levels outside this may indicate diselementosis.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” The condition is harmless, doesn't worsen, and needs no invasive treatment.
15 citations
,
April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
1 citations
,
January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.