January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
Trichoepithelioma and desmoplastic trichoepithelioma have distinct features that can be identified using reflectance confocal microscopy.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
5 citations
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March 1981 in “PubMed” A girl grew extra hair in areas where she had insect bites.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
2 citations
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June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
53 citations
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March 2006 in “Biopolymers” TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
December 2025 in “Cureus” Avoiding friction and using topical treatments can significantly improve rough skin caused by repeated rubbing.
August 2024 in “Skin Research and Technology” TAF can be identified by excessive skin thickening and clogged hair follicles, helping distinguish it from similar skin conditions.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
12 citations
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March 1981 in “International Journal of Dermatology” External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
22 citations
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January 2009 in “Medical mycology” A family got a fungal infection from a boy who had contact with rabbits, but they all recovered with treatment.
April 2026 in “Diagnostics” Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
12 citations
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September 2020 in “JAMA Dermatology” PRP patients show varied symptoms and need more research to understand related conditions.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
1 citations
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January 2016 in “Dermatology Online Journal” Triangular temporal alopecia can occur in adults and should be correctly identified to prevent misdiagnosis.
February 2018 in “BMJ case reports” An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
November 2024 in “Medicina” Recognizing scalp symptoms in PRP is crucial for proper diagnosis and treatment.
2 citations
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February 2018 in “Journal of dermatology & cosmetology” Triangular temporal alopecia is a benign hair loss pattern best diagnosed with dermoscopy, with limited treatment options like surgery and hair transplantation.
A 14-year-old girl with a condition that makes her hair easy to pull out also has a hair-pulling disorder, and treatment helped but she relapsed after a year.
12 citations
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June 2016 in “Clinical and experimental dermatology” A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
9 citations
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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.