October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
8 citations
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January 2003 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
1 citations
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August 1981 in “The Journal of Dermatology” All major hair defects involve cuticle abnormalities.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
2 citations
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May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
May 2021 in “Dermatopathology” The review emphasizes the need to recognize skin conditions that affect hair follicles and sweat glands to avoid misdiagnosis.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
12 citations
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January 2005 in “Pediatric Dermatology” Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.
2 citations
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January 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” Some immunosuppressed patients can get unusual skin infections from Malassezia, which can be treated with antifungal medication.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
2 citations
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March 2023 in “Frontiers in Medicine” Proper cleansing can resolve dermatosis neglecta, which may indicate underlying psychiatric issues.
4 citations
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January 2009 in “Indian Journal of Dermatology, Venereology and Leprology” A patient with granuloma annulare experienced both isotopic and isomorphic responses, with skin lesions responding to steroids but relapsing after stopping treatment.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
3 citations
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July 2019 in “Case Reports in Obstetrics and Gynecology” A young woman's rare ovarian tumor was successfully removed, improving her hormonal symptoms.
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
2 citations
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March 1997 in “Veterinary Dermatology” The Doberman had multiple skin tumors, but it's unclear if color dilution increased the risk.
2 citations
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October 1931 in “Archives of Dermatology and Syphilology” A rare scalp infection in a child developed into a kerion with additional skin symptoms.
September 2025 in “Dicle Medical Journal / Dicle Tip Dergisi” Skin issues are common in people with neurodegenerative diseases.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
81 citations
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February 2014 in “Clinics in dermatology” Demodex mites can cause skin issues, especially in people with weak immune systems.
43 citations
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December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
2 citations
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May 2023 in “Veterinary Pathology” Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.