January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
1 citations
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November 1983 in “The Lancet” Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
363 citations
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May 2006 in “Current Opinion in Psychiatry” Anorexia and bulimia lead to serious health problems and increased risk of death, requiring aggressive treatment.
Improved nutrition quickly healed the patient's skin lesions.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
November 2025 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is generally safe for adolescents with alopecia areata over 5 years.
24 citations
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May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
January 2025 in “Pediatrics in Review” The boy's symptoms improved with vitamin C treatment, highlighting the need to consider scurvy in kids with unusual diets.
16 citations
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September 2022 in “Plant Cell & Environment” Iron affects root hair growth in Arabidopsis during phosphate deficiency by influencing auxin signaling and vesicle trafficking.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
March 2023 in “Mağallaẗ wāsit li-l-ʿulūm wa-al-ṭibb” A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
8 citations
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April 2014 in “Anti-Cancer Drugs” A hormone linked to collagen helps hair grow back in mice after chemotherapy, and may also prevent bone loss.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
2 citations
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August 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
December 2025 in “Frontiers in Medicine” Ritlecitinib successfully treated a child's alopecia universalis after baricitinib failed.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
November 2024 in “Skin Appendage Disorders” Clinicians should consider individual factors and communicate risks and benefits when prescribing ritlecitinib for adolescent alopecia areata.
March 2026 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib is being tested for safety and effectiveness in young children with severe alopecia areata.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
15 citations
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January 1971 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” Hair analysis can't determine ponies' calcium and phosphorus levels; use soil and feed tests instead.
July 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Knuckle darkening can be an early sign of vitamin B12 deficiency.
50 citations
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May 1985 in “The journal of pediatrics/The Journal of pediatrics” Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.