April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
January 2024 in “Journal of the American Academy of Dermatology” Gabapentin helps with scalp itch, dutasteride works for frontal fibrosing alopecia, and more research is needed for better PCA treatments.
November 2021 in “Authorea (Authorea)” PRP treatments and hair transplantation may be linked to the progression of pseudolymphoma to lymphoma.
13 citations
,
January 2001 in “Pediatric dermatology” A dark-haired Chinese girl had hair that looked banded under certain light but was normal under a microscope.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
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.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
September 2023 in “Curēus” A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
1 citations
,
May 2024 in “Dermatology Online Journal” Scalp pemphigus vulgaris can be effectively treated with low-dose prednisone and triamcinolone.
November 2024 in “Journal of Investigative Dermatology”
1 citations
,
November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
January 2000 in “Hair and its disorders: biology, pathology and management, 2000, ISBN 1853177997, págs. 137-152”
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
16 citations
,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
7 citations
,
January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
February 2026 in “Pediatric Dermatology”
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
March 2021 in “Revista da Associação Médica Brasileira” 39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
6 citations
,
February 2015 in “Journal of parasitic diseases” Ivermectin injections and spray, along with hygiene measures, successfully treated sarcoptic mange in guinea pigs.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
6 citations
,
August 2006 in “Journal of Cutaneous Pathology” Two teenage brothers had a rare, treatment-resistant form of female-pattern hair loss with unusual scalp changes.
1 citations
,
January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
3 citations
,
May 2018 in “The Indian Journal of Animal Sciences” The KAP 7 gene affects wool traits in Rambouillet sheep, with the BB genotype showing the best wool characteristics.
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.
February 2021 in “Pakistan Armed Forces Medical Journal” A rare skin condition usually found near the eyes was found on a farmer's scalp.
March 2019 in “Nasza Dermatologia Online” A rare scalp condition with hair loss was correctly diagnosed and treated, leading to hair regrowth.