6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
16 citations
,
January 2023 in “Gynecological Endocrinology” Liver damage in PCOS is linked to iron overload and cell death due to the miR-761-hepcidin/GPX4 pathway.
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.
8 citations
,
August 2018 in “BMJ Case Reports” Pazopanib treatment caused rapid hair color loss, possibly indicating its effectiveness.
23 citations
,
January 1964 in “Archives of Dermatology” Treatment with vitamin A did not improve the child's skin condition.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
May 2026 in “International Journal of Drug Delivery Technology” Accurate diagnosis of EFFC is crucial for effective counseling and cosmetic care.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
9 citations
,
July 2016 in “The Journal of Dermatology” An 82-year-old man's white hair regained color after taking etretinate for psoriasis.
5 citations
,
March 2023 in “Journal of the American Academy of Dermatology” Prurigo pigmentosa mainly affects middle-aged White and Asian women, often linked to a ketogenic diet, and is best treated with oral antibiotics.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
12 citations
,
September 2020 in “JAMA Dermatology” PRP patients show varied symptoms and need more research to understand related conditions.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
25 citations
,
May 1995 in “Journal of the American Academy of Dermatology” Erythromelanosis follicularis faciei can also affect women, though it's rare.
22 citations
,
September 2015 in “Clinical lymphoma myeloma & leukemia/Clinical lymphoma, myeloma and leukemia” Recognizing and treating skin symptoms in essential thrombocythemia is crucial for patient quality of life.
97 citations
,
January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
February 2018 in “BMJ case reports” An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
3 citations
,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
September 2024 in “Dermatologica Sinica” Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
1 citations
,
February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
2 citations
,
November 1995 in “American Journal of Obstetrics and Gynecology” Taking vitamin B6 corrected a pregnant woman's metabolic disorder, which changed her hair color.
1 citations
,
August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
19 citations
,
October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
2 citations
,
January 1999 in “Dermatology” RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.