January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
December 2022 in “The journal of pediatrics/The Journal of pediatrics” A young girl's foot lesion was actually a rare condition caused by a hair fragment under the skin, not a parasite.
32 citations
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June 2003 in “The American Journal of Dermatopathology” Lipedematous scalp is mainly caused by an increase in fat tissue under the skin and is different from lipedematous alopecia.
Additional surgeries are often needed to fix facial issues in patients with orofacial clefts.
1 citations
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May 2015 in “Plastic and Reconstructive Surgery” The Sacred Heart Bilobed Flap is a surgical method for repairing small scalp defects with local flaps, relying on scalp elasticity and hair regrowth to hide any imperfections.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
February 2019 in “American Journal of Dermatopathology” A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.
3 citations
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August 1998 in “Dermatologic Surgery” Bobby Limmer was crucial in developing a hair transplant method that uses natural hair groupings for a more realistic look.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
16 citations
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August 2000 in “British Journal of Dermatology” Removing the liver tumor improved the patient's skin condition and hair growth.
30 citations
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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.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
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.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
21 citations
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July 2005 in “European Journal of Emergency Medicine” Hair-tourniquet syndrome can cause serious toe injuries in infants but can be treated if found early.