122 citations
,
June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
18 citations
,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
124 citations
,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
19 citations
,
October 1985 in “British Journal of Dermatology” The document concludes that unruly hair can be congenital or acquired, often lacks specific treatments, and can be managed with oils and short hairstyles.
42 citations
,
September 2000 in “British Journal of Dermatology” Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
13 citations
,
July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
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.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
26 citations
,
January 1983 in “PubMed” Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
1 citations
,
July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
33 citations
,
August 2008 in “American Journal Of Pathology” Hedgehog signaling is essential for normal sebaceous gland development and affects keratin 6a expression.
44 citations
,
January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
1 citations
,
August 2019 in “Pediatric dermatology” Topical minoxidil helped an 8-year-old boy with a genetic hair disorder grow hair.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
9 citations
,
April 1986 in “Postgraduate Medicine” Hair loss has many causes and treatments, and losing some hair daily is normal; proper diagnosis is key, and minoxidil can help treat it.
5 citations
,
November 2011 in “Expert Review of Dermatology” The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
7 citations
,
July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
6 citations
,
May 1993 in “Archives of Disease in Childhood” Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
1 citations
,
January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.