30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
25 citations
,
June 2018 in “Journal of The American Academy of Dermatology” Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
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.
June 2023 in “Scholars journal of medical case reports” A black-skinned woman was diagnosed with Vogt-Koyanagi-Harada disease and treated with steroids and eye drops.
November 2022 in “JAAD case reports” The text talks about a rare skin condition causing hair loss and suggests that people with this should also check their lung and heart health.
30 citations
,
May 2005 in “Pediatric dermatology” Some families have a genetic condition where they are born with irregular scalp defects.
10 citations
,
November 1946 in “Journal of the American Medical Association” Severe vitamin deficiencies in children can cause significant hair problems.
January 2024 in “Revista Dermatológica Centro Uraga” The patient has Chronic Cutaneous Lupus, a skin condition causing plaques and hair loss.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
3 citations
,
April 2002 in “The American Journal of Medicine” The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
7 citations
,
December 2016 in “British Journal of Dermatology” The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
5 citations
,
March 1943 in “Archives of Dermatology and Syphilology” A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
1 citations
,
January 2019 in “Via Medica Journals” Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.
9 citations
,
July 2020 in “JAMA dermatology” Dermatoscopy can help diagnose CCCA without visible hair loss, offering a less invasive option than biopsy.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
4 citations
,
September 2020 in “Journal of Cutaneous Pathology” 6 citations
,
April 2012 in “Muscle & nerve” Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
81 citations
,
December 2009 in “Journal of Dermatological Science” Fat tissue stem cells may help increase hair growth.
3 citations
,
December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
29 citations
,
September 1986 in “Journal of the American Veterinary Medical Association” The cat had a pituitary tumor causing hormone imbalance and related health issues.
October 2023 in “Revista Medicina Cutánea Ibero-Latino-Americana” Alopecia areata often appears on the scalp and is linked to various health issues, needing thorough evaluation.
23 citations
,
January 2019 in “Journal of wildlife diseases” Boreal caribou in northeastern British Columbia have significant health issues, including infections, tick infestations, and mineral deficiencies.