July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
1 citations
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December 2021 in “Daehan hwa'sang haghoeji” A patient with a severe scalp burn developed chronic bone infection, treated with surgery and muscle-skin flap from the back.
December 2018 in “Neuroradiology” MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
9 citations
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August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
1 citations
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April 2021 in “Annals of Otology Rhinology & Laryngology” Surgical removal is advised for large congenital blue nevi due to rare cancer risk.
2 citations
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December 2008 in “Clinical and Experimental Dermatology” A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.
14 citations
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November 2023 in “Mycoses” Kerion Celsi in children is treated with antifungals, not surgery, to prevent scarring.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” The case suggests that dissecting cellulitis of the scalp can occur in a White child and should be considered when diagnosing pediatric scarring alopecia.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
1 citations
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December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
5 citations
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December 2016 in “Microscopy Research and Technique” EPI-NCSCs from hair follicles may help treat brain development issues in mice.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
3 citations
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June 2021 in “Case Reports in Infectious Diseases” Fungal infections should be considered in scalp swelling to avoid misdiagnosis.
21 citations
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August 2002 in “British Journal of Ophthalmology” October 2025 in “Indian Journal of Paediatric Dermatology” The infant's hair loss resolved naturally by 20 months without treatment.
February 2023 in “Journal of the European Academy of Dermatology and Venereology”
9 citations
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April 2020 in “Journal of dermatology” A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
July 2025 in “Journal of Medical Science And clinical Research” A 21-year-old male has a rare scalp condition with excessive skin folds.
3 citations
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September 2020 in “Case reports in dermatological medicine” Misdiagnosing kerion as a bacterial infection can lead to unnecessary surgery and permanent hair loss.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
38 citations
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November 2006 in “Pediatric dermatology” Infants with scalp injuries developed a skin condition that improved with steroid creams.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
June 2024 in “Australasian Journal of Dermatology” A 13-year-old boy with a rare scalp condition improved significantly with isotretinoin, minoxidil, oral steroids, and antiseptic shampoo.
1 citations
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May 2017 in “Molecular and Clinical Oncology” An epidermal cyst in the temporal bone can occur as a rare delayed complication after ear surgery.