A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
3 citations
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January 2014 in “Indian dermatology online journal” A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
7 citations
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
11 citations
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
8 citations
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February 2010 in “Journal für Kardiologie (Krause & Pachernegg GmbH)” A new system helps better diagnose and treat female androgenization conditions like PCOS.
7 citations
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April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
3 citations
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January 2004 in “Journal of Wildlife Diseases” A deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
3 citations
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May 1990 in “Journal of Steroid Biochemistry” Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
1 citations
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August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
January 2018 in “Springer eBooks” Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
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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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
3 citations
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February 2012 in “The American Journal of Dermatopathology” A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
A white-tailed deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
A hair growth ointment improved hair length in a family with a genetic hair growth condition.
1 citations
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December 2020 in “Acta dermato-venereologica” Some scalp sores are linked to different inherited skin conditions.
November 1966 in “British Journal of Dermatology” The meeting discussed various skin conditions, treatments, and unusual cases, highlighting the effectiveness of tetracycline in treating rosacea.
11 citations
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May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
November 2022 in “The Journal of Clinical Endocrinology and Metabolism” Postmenopausal hyperandrogenism, a condition with symptoms like increased hair growth and acne, is usually caused by PCOS but can also be due to other factors. It's diagnosed by checking testosterone levels and treated either by removing the adrenal tumor or through antiandrogen therapy.
January 1990 in “Irish Journal of Medical Science (1971 -)” Retinoids are important for treating skin conditions but should be used with caution due to serious side effects and risks during pregnancy.