4 citations
,
October 2001 in “Mycoses” A young cat had a rare fungal infection caused by Microsporum gypseum.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
15 citations
,
December 2014 in “Dermatology and therapy” Sorafenib can cause facial acne-like eruptions, which improve after reducing the dose or stopping the drug.
March 2024 in “Romanian Medical Journal” Early diagnosis and treatment of achalasia and hyperthyroidism improve patient outcomes.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
56 citations
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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.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
July 2016 in “Reumatología Clínica (English Edition)” The patient with Ankylosing Spondylitis had shoulder joint damage and bone changes.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
10 citations
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July 2014 in “Annals of Saudi Medicine” A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
November 2024 in “Journal of Investigative Dermatology” Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
4 citations
,
January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
8 citations
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September 2016 in “The American Journal of Dermatopathology” Enlarged sweat gland ducts may indicate scarring hair loss.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
9 citations
,
August 2002 in “British journal of ophthalmology” The document reports a rare case of ECCL with a new association with optic disc colobomas.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
26 citations
,
September 1990 in “Ophthalmology” The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
1 citations
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April 2011 in “Clinical Kidney Journal” A benign skin tumor grew quickly in a dialysis patient and was surgically removed.
August 2024 in “Skin Research and Technology” TAF can be identified by excessive skin thickening and clogged hair follicles, helping distinguish it from similar skin conditions.
11 citations
,
January 2010 in “Journal of oral and maxillofacial surgery”
1 citations
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November 2015 in “European medical journal” Acne is common and can be linked to various systemic health conditions and syndromes.
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.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
66 citations
,
August 1999 in “The Journal of Clinical Endocrinology & Metabolism” Women with acromegaly often have irregular periods due to hormone imbalances and growth hormone effects.
December 2024 in “Veterinary Dermatology” A sugar glider had a rare skin cancer that worsened despite treatment, highlighting the need for thorough checks in exotic pets.
6 citations
,
January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplements effectively treat acrodermatitis enteropathica.
40 citations
,
May 2010 in “American Journal of Clinical Dermatology” AKN might be a skin marker for metabolic syndrome.
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.