1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
175 citations
,
December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
5 citations
,
January 2012 in “PubMed” Anti-MND antibodies are present in various diseases, not just PBC, and their levels don't correlate with disease activity or skin symptoms.
December 2021 in “Pathologica” Trichogerminoma is a rare, benign skin tumor from hair cells, with a small risk of becoming cancerous.
24 citations
,
June 2003 in “Journal of Structural Biology” Sheet formation is key to macrofibril structure differences in wool.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
21 citations
,
January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
8 citations
,
January 2006 in “Dermatology Online Journal” The girl's skin condition is benign but challenging to treat due to its size and location.
38 citations
,
July 1998 in “Journal of surgical oncology” A woman with breast cancer developed a rare condition causing excessive fine hair growth on her face and body.
28 citations
,
July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
January 2006 in “Chinese Journal of Dermatology” Amelanotic melanocytes from hair follicles are immature and likely don't transfer melanosomes to keratinocytes.
April 2018 in “Journal of Investigative Dermatology” Mutations in Far2 mice cause hair loss due to sebaceous gland issues.
20 citations
,
September 2018 in “Journal of cutaneous pathology” Different skin diseases show unique patterns of skin cell separation, cell death, and granular layer changes.
1 citations
,
February 2015 in “Revista Acadêmica Ciência Animal” A mare had a functional ovary with a tumor containing cartilage and bone.
December 2022 in “The Turkish Journal of Pediatrics” Hair examination helps diagnose rare neurological diseases in children.
60 citations
,
August 2009 in “Journal of the American Academy of Dermatology” The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.
April 2018 in “Journal of Investigative Dermatology” The keratin network in mouse skin changes during cornification and affects the skin's protective barrier.
January 2026 in “Cosmoderma” A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
Polarized microscopy helps identify hair irregularities in genetic disorders.
January 2006 in “International water power & dam construction” Nevus comedonicus can appear later in life and affect both eyelids.
58 citations
,
November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
1 citations
,
January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
26 citations
,
October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
9 citations
,
August 2017 in “Journal of comparative pathology” Trichoblastomas in rabbits are linked to uncontrolled embryonic hair growth and have distinct histological features.