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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
Shock wave therapy improved muscle function and movement in children with spastic cerebral palsy.
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
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February 1981 in “Journal of the Royal Society of Medicine” A three-year-old girl survived a rare serious infection caused by BCG vaccination, which improved after treatment with a leprosy drug.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
Onabotulinum toxin A may help treat trichotillomania and promote hair growth.
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August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
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March 2013 in “British Journal of Dermatology” Recognizing eyebrow hair loss linked to a rare skin condition is crucial for proper treatment.
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April 2006 in “Cephalalgia” Botulinum A toxin injections reduced pain and promoted hair regrowth in a woman with a rare form of alopecia areata.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
May 2023 in “Research Square (Research Square)” Botulinum toxin type A helps treat hair loss by stopping cell death in hair follicles through a process involving certain non-coding RNAs and a protein called Bax.
July 2024 in “Journal of the American Academy of Dermatology” Botulinum toxin may help treat male pattern baldness.
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April 1969 in “Archives of Dermatology” Skin biopsy is crucial for diagnosing unknown baldness causes.
Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
December 2020 in “American Journal of Transplantation” Early recognition and treatment of VATS in transplant patients improve outcomes.
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January 2008 in “Cochrane Database of Systematic Reviews” Glucocorticoid corticosteroids improve muscle strength in Duchenne muscular dystrophy but can cause side effects.
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March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.