21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
16 citations
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March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
9 citations
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April 2010 in “The Journal of Dermatology” Nestin helps identify certain melanoma cells in nodular melanoma.
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.
49 citations
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March 2014 in “Dermatologic clinics” These skin conditions in African men need combined medical treatments and lifestyle changes.
August 2025 in “Biomedicines” Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
2 citations
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
24 citations
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May 2000 in “Journal of the American Academy of Dermatology” Pseudopelade can affect both the scalp and beard, causing hair loss.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
July 2018 in “Elsevier eBooks” Acne keloidalis nuchae is a chronic skin condition more common in African men, causing itchy or painful bumps and can lead to permanent hair loss if not treated early.
Certain skin and family history markers predict vitiligo severity and treatment needs.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
6 citations
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November 2017 in “Journal of the European Academy of Dermatology and Venereology” A woman got melanoma on her scalp after anti-hair loss treatment with injections.
1 citations
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July 2024 in “Journal of Investigative Dermatology” Immune cells boost stem cell activity in hairy moles, causing more hair growth.
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.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
January 2005 in “Journal of Cutaneous Pathology” A new benign nail tumor called onychoblastoma was identified.
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.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
September 2024 in “Indian Journal of Dermatology Venereology and Leprology”
2 citations
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March 2023 in “JAAD case reports” Hair repigmentation can indicate malignancy and should be investigated.
August 2025 in “International Journal of Clinical Dermatology” A new skin cancer can develop where shingles once occurred.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.