15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
4 citations
,
January 2016 in “Annals of dermatology/Annals of Dermatology” Iron supplements can restore normal hair color in cases of premature graying linked to iron deficiency.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
8 citations
,
October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
May 2024 in “Medicine today” Older age, family history, and low iron levels increase the risk of female hair loss.
1 citations
,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
January 2021 in “Biomedical Research-tokyo” Reticulocyte hemoglobin content is the best indicator of iron deficiency causing hair loss in women.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
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.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
72 citations
,
October 2010 in “Journal of The American Academy of Dermatology” Iron deficiency common in women, not always linked to hair loss; more research needed.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
1 citations
,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
15 citations
,
August 2013 in “Gene” The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
1 citations
,
October 2016 Genetic hair disorders can indicate other hidden health problems.
97 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
6 citations
,
August 2023 in “Journal of Investigative Dermatology” Skin plays a key role in managing iron levels, and inflammation can affect systemic iron, potentially causing anemia.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
September 2025 in “Romanian Journal of Medical Practice” Iron deficiency is linked to female pattern hair loss.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
79 citations
,
February 2009 in “Human Genetics”
26 citations
,
September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
7 citations
,
May 2019 in “Journal of the Formosan Medical Association” HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.