April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
November 2022 in “Journal of the Endocrine Society” A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
June 2001 in “European Journal of Dermatology” A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
2 citations
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February 2025 Merkel cell polyomavirus can infect and persist in skin cells, evading the immune system, but certain treatments can control it.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
19 citations
,
October 1996 in “International Journal of Dermatology” Pseudopelade is a rare inherited hair loss condition with a genetic cause.
31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
22 citations
,
April 2000 in “International Journal of Dermatology” A 78-year-old farmer with lung disease had skin lesions from a fungal infection that healed completely with medication.
12 citations
,
November 2014 in “Journal of Cutaneous Medicine and Surgery” Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
A thorough diagnostic process and teamwork are crucial for managing complex hyperandrogenism in postmenopausal women.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
October 2024 in “Journal of the Endocrine Society” Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
20 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
3 citations
,
February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
1 citations
,
May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
87 citations
,
August 1974 in “Journal of Investigative Dermatology” December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
7 citations
,
September 2006 in “Molecular Carcinogenesis” Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
12 citations
,
January 2014 in “Dermatology online journal” White hair regrowth in alopecia areata may be more common than thought.
1 citations
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January 2021 in “Dermatology Review” A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.
37 citations
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January 2010 in “Journal of Clinical Investigation” N-WASP is essential for normal hair growth in mice.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.