3 citations
,
January 2008 in “Journal of the American Academy of Dermatology” A patient's skin rash did not affect the area where a previous viral rash was healing, suggesting a rare immune response.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
4 citations
,
January 2004 in “Biological and Pharmaceutical Bulletin” AgK114 protein helps in hamster skin injury recovery.
7 citations
,
February 2012 in “British Journal of Dermatology” TH antibodies in vitiligo and AA patients recognize the same protein parts.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
7 citations
,
February 2002 in “Veterinary Dermatology” Intracorneal vacuoles are common in parakeratotic skin diseases in dogs, especially with more parakeratosis.
July 2024 in “Journal of Investigative Dermatology” DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
May 2021 in “Journal of the Endocrine Society” The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
December 2024 in “Clinical Cosmetic and Investigational Dermatology” Vitiligo often starts young, is linked to family history and stress, and requires comprehensive care including psychological support.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
Children with chronic kidney disease often have skin, hair, and nail problems.
March 2012 in “Journal of The American Academy of Dermatology” A 7-year-old boy's unusual hair loss was caused by a herpes infection and healed after treatment.
February 2026 in “HCA Healthcare Journal of Medicine” Recognizing keratosis pilaris in all skin tones helps diagnose related skin issues and reduce distress.
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.
7 citations
,
January 2022 in “Case Reports in Endocrinology” Ovarian hyperthecosis can cause symptoms even with normal testosterone levels, and surgery can improve these symptoms.
26 citations
,
April 2007 in “Journal of clinical oncology” August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
6 citations
,
July 2020 in “Photodermatology Photoimmunology & Photomedicine” Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.
4 citations
,
September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
2 citations
,
November 2022 in “IP Indian journal of clinical and experimental dermatology” Dermoscopic and histopathological features combined can help diagnose Pityriasis versicolor.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
33 citations
,
October 2018 in “BMJ Case Reports” Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.