July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
April 2014 in “Jurnal Biomedik : JBM” An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.
February 2026 in “Cureus” Trichoscopy helps correctly diagnose alopecia areata, not syphilitic alopecia, in patients with recent syphilis.
January 2017 in “프로그램북(구 초록집)” Iron deficiency anemia can cause hair breakage.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
December 2025 in “American Journal of Case Reports” Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
1 citations
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June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
7 citations
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February 2012 in “British Journal of Dermatology” TH antibodies in vitiligo and AA patients recognize the same protein parts.
3 citations
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August 2024 in “Frontiers in Endocrinology” Thyroid issues can cause alopecia areata.
49 citations
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April 2007 in “Pediatric Dermatology” Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
39 citations
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July 2015 in “British Journal of Dermatology” The pseudo 'fringe sign' can also appear in frontal fibrosing alopecia, not just in traction alopecia, showing that this condition may be more common than thought.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
6 citations
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January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
20 citations
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June 2019 in “JAAD Case Reports” Tofacitinib can cause skin eruptions similar to palmoplantar pustulosis.
2 citations
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August 2014 in “PubMed” Losartan may help treat Postural Orthostatic Tachycardia Syndrome (POTS) symptoms.
4 citations
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February 1988 in “Journal of the American Academy of Dermatology” Congenital triangular alopecia is more common than thought and some treatments can be beneficial for appearance concerns.
April 2012 in “Informa Healthcare eBooks” Syphilitic alopecia is a rare hair loss condition in secondary syphilis that looks similar to another condition but can be diagnosed with specific tests and responds to antibiotics.
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
2 citations
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January 2014 in “Indian Journal of Critical Care Medicine” Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
July 1998 in “Annals of saudi medicine/Annals of Saudi medicine” A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
January 2022 in “Clinical Cases in Dermatology” A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
January 2022 in “Indian Journal of Paediatric Dermatology” A 13-year-old girl was diagnosed with juvenile lupus, showing only hair loss as a symptom.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
March 2024 in “Intisari Sains Medis” Low free thyroxine (FT4) is common in young lupus patients and needs quick diagnosis and treatment.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.