January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
September 2009 in “Pediatric Dermatology” UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
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.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
February 2013 in “Journal of The American Academy of Dermatology” A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
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.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
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.
25 citations
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March 2008 in “Surgical Neurology” New techniques for treating scalp blood vessel malformations are effective and can have good cosmetic results.
December 2017 in “Canadian journal of ophthalmology” A rare skin condition was misdiagnosed as a harmless mole on a woman's eyelid.
October 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” The patient has a rare skin condition that shows features of two known disorders.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
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.
5 citations
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May 2021 in “BMC surgery” A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
10 citations
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November 2007 in “Annals of Diagnostic Pathology” A rare benign tumor with hair follicle features was found on a man's trunk.
1 citations
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January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
23 citations
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December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
8 citations
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January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
1 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.
Ethanol embolization and debridement successfully treated a scalp AVM, stopped bleeding, and restored hair growth.
September 2024 in “Dermatologica Sinica” Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
1 citations
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May 2007 in “Chinese Medical Journal” Complete removal of large scalp nevi is recommended to prevent complications.
2 citations
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May 2018 in “International journal of reproduction, contraception, obstetrics and gynecology” Ovarian hemangioma is a rare, benign tumor that can be treated effectively with surgical removal.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
31 citations
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January 2007 in “Journal of the American Academy of Dermatology” A rare skin growth was successfully removed without recurrence after one year.