April 2025 in “Current Rheumatology Reviews” Recognizing unusual symptoms can lead to early diagnosis and effective treatment of systemic lupus erythematosus.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
3 citations
,
June 2015 in “Serbian Journal of Dermatology and Venereology” The conclusion is that cerebrovascular diseases can cause seizure-like activity in stroke patients, which can be improved with antiepileptic drugs.
5 citations
,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
9 citations
,
September 2018 in “JAAD Case Reports” Lichen planopilaris can be triggered by prolonged scalp traction and can be treated with corticosteroids.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
1 citations
,
July 2019 in “Case reports in dermatology” A Thai boy was diagnosed with a rare hair disorder causing hair thinning and shedding.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
18 citations
,
March 2015 in “Journal of Dermatological Case Reports” Rectangular black granules, solitary yellow dots, and mostly single-hair follicles suggest Loose Anagen Hair Syndrome.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
32 citations
,
August 1982 in “Journal of the American Academy of Dermatology” GLPLS and LPP are variants of lichen planus.
1 citations
,
September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
1 citations
,
July 2021 in “Curēus” A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
March 1998 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Removing a tumor may resolve associated skin and hair symptoms.
17 citations
,
January 2014 in “Journal of Oral and Maxillofacial Pathology” Seborrheic keratosis is a common, harmless skin growth that can look like cancer, so it may need a biopsy.
18 citations
,
January 2016 in “Journal of Clinical Medicine Research” A woman with lupus and severe nerve damage improved with specific treatments.
5 citations
,
January 2016 in “Skin appendage disorders” A rare skin condition called linear lichen planopilaris caused itchy red bumps and hair loss on a man's face.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
9 citations
,
April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
3 citations
,
January 2019 in “Journal of Dermatology” 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.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.