16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
1 citations
,
October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
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.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
34 citations
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December 1984 in “Journal of Cutaneous Pathology” Monilethrix hair issues are due to problems in the hair's internodes.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
6 citations
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January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
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.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
30 citations
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January 1999 in “Journal of Cutaneous Pathology” Spiny keratoderma may be ectopic hair formation on palms and soles.
4 citations
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March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
January 2024 in “The Indian Veterinary Journal” A young goat with skin issues improved with medication and supplements.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
11 citations
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January 2005 in “Brazilian Journal of Medical and Biological Research” Hairless USP mice have enlarged skin cysts as they age.
16 citations
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January 2005 in “Pediatric Dermatology” A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
March 2021 in “Revista da Associação Médica Brasileira”
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
28 citations
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July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
21 citations
,
January 2005 in “Pediatric Dermatology” An 8-year-old girl with vitiligo developed extra hair growth on her knee after using tacrolimus ointment.
12 citations
,
January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
February 2013 in “Journal of the American Academy of Dermatology” Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
8 citations
,
July 1986 in “International Journal of Dermatology” Eruptive vellus hair cysts are harmless skin bumps that may go away on their own.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
37 citations
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January 1993 in “Journal of Investigative Dermatology”
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.