August 2024 in “Postgraduate Medical Journal” A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.
4 citations
,
December 2014 in “Indian Journal of Dermatology” A rare skin condition with cysts was found on a 5-year-old boy's scalp.
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.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
October 2023 in “Pathology” A woman had a rare reaction to ear piercing that caused earlobe swelling, which was best treated by removing the piercing and not re-piercing.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
7 citations
,
January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
9 citations
,
October 2015 in “Journal of Cutaneous Pathology” Erythematous papulopustular eruptions in cancer patients using EGFR inhibitors show specific skin changes that vary with severity and treatment type.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
5 citations
,
January 2015 in “Skin appendage disorders” Colored hair-thickening fibers can help hide hair loss in some people with Epidermolysis Bullosa but may cause scalp irritation.
1 citations
,
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.
98 citations
,
June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
9 citations
,
January 2006 in “Cutaneous and ocular toxicology” L-cystine, D-pantothenat, and miliacin together significantly boost keratinocyte growth and metabolism.
1 citations
,
May 2017 in “Molecular and Clinical Oncology” An epidermal cyst in the temporal bone can occur as a rare delayed complication after ear surgery.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
7 citations
,
March 2020 in “Journal of the American Academy of Dermatology” EGFR inhibitors often cause dry, brittle hair and eyebrow/eyelash changes.
48 citations
,
March 1993 in “The Laryngoscope” Cholesteatoma shows abnormal and increased EGF receptor expression, indicating its rapid growth.
1 citations
,
January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
1 citations
,
August 2024 in “Pediatric Dermatology” A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
5 citations
,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
February 2026 in “Cosmetics” Perifollicular elastolysis is poorly understood, with limited treatment options and inconsistent results.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.