10 citations
,
November 2019 in “Journal of the European Academy of Dermatology and Venereology” The RAS pathway affects hair growth differently in CFCS and CS.
16 citations
,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
8 citations
,
August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
29 citations
,
June 2000 in “Endocrinology” Alopecia in VDR knockout mice is due to impaired hair cycle initiation, not keratinocyte issues.
28 citations
,
February 2014 in “Journal of Cutaneous Pathology” Keratoacanthoma changes as it grows, showing different hair follicle characteristics at each stage.
March 2025 in “AYUSHDHARA” Ayurvedic treatment with Gandharvahastadi Kwath improved thyroid dysfunction symptoms.
July 2025 in “Journal of Ayurveda and Holistic medicine.” The treatment improved hair thickness and reduced hair loss.
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Hyperthyroidism can hide signs of high androgen levels in females.
47 citations
,
September 2004 in “Journal of Biological Chemistry” Hoxc13 regulates specific hair protein genes on mouse chromosome 16.
Diseased horse foot skin shows increased keratin expression, similar to wound healing in mammals.
4 citations
,
October 2018 in “JAMA Dermatology” Ruxolitinib may help treat hair loss and symptoms in patients with chronic graft-versus-host disease.
1 citations
,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
1 citations
,
September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
1 citations
,
April 2018 in “Turkish Journal of Dermatology” Childhood hypertrichosis is excessive hair growth not linked to hormones, with types based on location and origin.
2 citations
,
June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
4 citations
,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
3 citations
,
March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
99 citations
,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
80 citations
,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
4 citations
,
April 1983 in “The Journal of Dermatology” A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
19 citations
,
August 2017 in “American journal of clinical dermatology” Hepatitis B virus exposure may be linked to increased risk of alopecia areata.
16 citations
,
May 2013 in “Australasian Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome is reversible by treating the gut issues and doesn't need steroid treatment for the hair itself.
5 citations
,
September 2017 in “Medicine” A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.