5 citations
,
January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
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.
January 2011 in “Journal of the American Academy of Dermatology” Dr. Conroy's book on Morgellon's disease lacks credible evidence and scientific validity.
2 citations
,
December 2019 in “Leprosy Review” A woman's hair loss and skin discoloration were found to be caused by a rare case of leprosy on the scalp, not alopecia-vitiligo overlap.
January 2026 in “Case Reports in Dermatological Medicine” Lichen Planus in siblings may be influenced by genetics and environment.
38 citations
,
August 2005 in “Veterinary dermatology” A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
26 citations
,
September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
October 2021 in “International journal of basic and clinical pharmacology” Excessive eyelash growth from erlotinib may indicate positive tumor response and help treat madarosis.
April 2019 in “Journal of Investigative Dermatology” The PROCLIPI study found markers that help predict outcomes in skin lymphoma patients.
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.
2 citations
,
March 2019 in “Veterinary dermatology” Thymoma in cats can cause hair loss without inflammation.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
2 citations
,
May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
13 citations
,
July 2016 in “Pediatric Dermatology” Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.
12 citations
,
March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
August 2018 in “Journal of The American Academy of Dermatology” A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
August 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Ixekizumab may be an effective first treatment for a rare skin condition causing hair loss.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
1 citations
,
April 2016 in “Journal of The American Academy of Dermatology” The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
16 citations
,
January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
August 2019 in “Journal of Dermatology” Woman with diabetes had hair loss due to rare ovarian tumor; surgery improved hair growth.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
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.
6 citations
,
June 1986 in “The Journal of Dermatology” Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
20 citations
,
February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
10 citations
,
January 1994 in “Annals of Internal Medicine” CD4+ lymphocytopenia can occur in patients with systemic lupus erythematosus.