22 citations
,
January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
1 citations
,
February 1991 in “Journal of Biological Chemistry” 16 citations
,
August 2000 in “British Journal of Dermatology” Removing the liver tumor improved the patient's skin condition and hair growth.
19 citations
,
August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
35 citations
,
February 2003 in “Biochimica et Biophysica Acta (BBA) - General Subjects” Lead can help reveal and organize lipids in human hair.
2 citations
,
November 2018 in “Veterinary Dermatology” Poodles' hair changes aren't always linked to calcium, and special staining is needed to detect true calcium deposits.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
178 citations
,
October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
33 citations
,
December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
14 citations
,
April 1976 in “Journal of Cutaneous Pathology” A calcified nodule on a boy's face came from hair follicles and expelled calcium through the skin.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
6 citations
,
May 2002 in “British journal of dermatology/British journal of dermatology, Supplement” A rare skin condition linked to leukemia improved with chemotherapy.
April 2025 in “Revista Digital de Postgrado” Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
April 2020 in “Journal of the Endocrine Society” A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
49 citations
,
September 2004 in “Journal of the European Academy of Dermatology and Venereology” Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
8 citations
,
February 2005 in “Veterinary dermatology” Chesapeake Bay retrievers' hair loss is likely a breed-specific, hereditary condition linked to abnormal steroid levels and distinct skin changes.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
2 citations
,
January 1990
4 citations
,
November 1968 in “Textile research journal” Hair fibers may have a unique, non-protein sheath not previously identified.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Thorough evaluation and treatment are crucial for thyroid nodules.
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.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
21 citations
,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
7 citations
,
January 1976 in “International Journal of Environmental Studies” Cholesterol may slow cell division and contribute to male pattern baldness.
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.