September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
October 2021 in “Revista Medicina Cutánea Ibero-Latino-Americana” PRIDE syndrome helps identify skin side effects from EGFR inhibitors like erlotinib.
April 1906 in “The American Journal of the Medical Sciences” Keratosis Pilaris Atrophicans causes skin scarring and might be treated with a new synthetic retinoid.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
September 2021 in “CRC Press eBooks” Lichen planopilaris causes permanent hair loss and scarring due to damage to hair follicles and can be mistaken for other hair loss conditions.
4 citations
,
December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
January 2023 in “Advances in reproductive sciences” Higher levels of the protein Pannexin-1 may play a role in hair loss in women with PCOS.
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
February 2026 in “International Journal of Homoeopathic Sciences” Plica Polonica is a rare hair disorder causing severe matting, managed by detangling or cutting, and prevented with regular hair care.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
3 citations
,
January 1985 in “Acta Obstetricia Et Gynecologica Scandinavica” A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
6 citations
,
February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
19 citations
,
August 1996 in “British Journal of Dermatology” Alopecia areata affects hair follicle structure, even in non-balding areas.
1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
June 2025 in “Judi Clinical Journal” Multiple pilonidal sinuses can be successfully treated with a mix of surgery and conservative care.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
13 citations
,
November 1985 in “International Journal of Dermatology” The study found clear differences in lesion distribution and microscopic features among trichostasis spinulosa, keratosis pilaris, and eruptive vellus hair cysts.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
5 citations
,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
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.
January 2026 in “Acta Dermato Venereologica” Dupilumab effectively treats severe skin issues in a rare genetic disorder.
33 citations
,
June 2017 in “Developmental Biology” Mice can correct hair follicle orientation without certain genes, but proper overall alignment needs those genes.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
January 2026 in “Indian Journal of Paediatric Dermatology” A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.