19 citations
,
March 2013 in “Journal of Cutaneous Pathology” The study found unique skin changes in a rare type of alopecia linked to a skin condition called linear morphea.
2 citations
,
October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
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.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
2 citations
,
January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
10 citations
,
June 2019 in “Case reports in dermatology” LALPS causes non-scarring hair loss along the Blaschko line, with unique trichoscopic findings.
4 citations
,
January 2017 in “PubMed” A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
January 2012 in “Modern Plastic Surgery” Toe Tourniquet Syndrome is often misdiagnosed.
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
7 citations
,
January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
October 2024 in “Heliyon” Consider systemic lupus erythematosus in patients with unexplained intracranial hypertension.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
76 citations
,
June 2008 in “Journal of the American Academy of Dermatology” The conclusion is that certain scalp tissue changes are characteristic of lichen planopilaris, with mucinous perifollicular fibroplasia being a new feature for diagnosis.
April 2018 in “African journal of rheumatology” A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.
4 citations
,
January 2015 in “Case Reports in Rheumatology” Early recognition and management of connective tissue diseases like lupus are crucial in young patients.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
26 citations
,
April 2007 in “Journal of clinical oncology”
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
2 citations
,
January 2018 in “European journal of pediatric surgery reports” A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
18 citations
,
January 2016 in “Journal of Clinical Medicine Research” A woman with lupus and severe nerve damage improved with specific treatments.
July 2025 in “Russian Journal of Skin and Venereal Diseases” Lichen planus on the scalp can cause scarring hair loss and has four main types.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
3 citations
,
May 2018 in “The American Journal of Medicine” A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
32 citations
,
July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.