13 citations
,
January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
4 citations
,
January 2011 in “European journal of dermatology/EJD. European journal of dermatology” A boy had a rare scalp condition with thickened skin and different-colored hair.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
January 2024 in “Skin Appendage Disorders”
December 2022 in “The journal of pediatrics/The Journal of pediatrics” A young girl's foot lesion was actually a rare condition caused by a hair fragment under the skin, not a parasite.
September 1973 in “Primates”
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
8 citations
,
January 2019 in “JAAD Case Reports” EPDS can cause recurring scalp sores and hair loss if not treated.
4 citations
,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
6 citations
,
February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
July 2022 in “Dermatology Reports” A rare scalp condition called Erosive pustular dermatosis is hard to diagnose and treat.
20 citations
,
January 2005 in “Australasian Journal of Dermatology” A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
3 citations
,
September 2022 in “European Journal of Dermatology” 1 citations
,
January 2008 in “SKINmed Dermatology for the Clinician” Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
September 2023 in “Journal of the American Academy of Dermatology” A rare benign scalp tumor in an infant requires surgical removal.
42 citations
,
January 2003 in “International Journal of Gynecological Pathology” PEH in vulvar LS is common and needs careful diagnosis to avoid confusion with cancer.
3 citations
,
June 2023 in “Cureus” Pilomatricomas should be considered to avoid misdiagnosis in children with unusual skin tumors.
June 2026 in “The Journal of Dermatology” February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.