November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
February 2025 in “JEADV Clinical Practice” A rare autoimmune disease caused the woman's scalp blisters and hair loss, successfully treated with medication.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
August 2018 in “Journal of The American Academy of Dermatology” A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
September 2024 in “Journal of the American Academy of Dermatology” The patient responded well to treatment with no disease progression.
22 citations
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January 2009 in “Medical mycology” A family got a fungal infection from a boy who had contact with rabbits, but they all recovered with treatment.
16 citations
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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.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
1 citations
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May 2024 in “Dermatology Online Journal” Scalp pemphigus vulgaris can be effectively treated with low-dose prednisone and triamcinolone.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
October 2021 in “European Journal of Dermatology” CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
38 citations
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November 2006 in “Pediatric dermatology” Infants with scalp injuries developed a skin condition that improved with steroid creams.
1 citations
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November 2003 in “Annals of saudi medicine/Annals of Saudi medicine” A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
1 citations
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January 2022 in “Clinical Cases in Dermatology” A rare scalp condition was successfully treated with specific medications after 9 months.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
1 citations
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December 2022 in “Pediatric dermatology” A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
1 citations
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November 2003 in “SKINmed Dermatology for the Clinician” A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
6 citations
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January 2003 in “Dermatology” Men with X-linked recessive ichthyosis often experience male-pattern baldness.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” A newborn with ichthyosis was successfully treated using specific neonatal care methods.
29 citations
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June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
19 citations
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March 2011 in “The Journal of Dermatology” A child's rare skin disease was triggered by chickenpox.
13 citations
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January 2012 in “Case reports in dermatological medicine” An 84-year-old man got a rare scalp condition from using imiquimod cream, which was cured with systemic steroids.
November 2024 in “Journal of Investigative Dermatology” Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.