18 citations
,
April 2016 in “American Journal of Dermatopathology” Larger nail cavity sizes suggest benign tumors, while smaller ones may need further biopsy to rule out cancer.
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.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
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.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
16 citations
,
October 1992 in “Journal of cutaneous pathology” Bubble hair deformity may be caused by hair shaft trauma and can improve with gentle hair care.
4 citations
,
January 2019 in “Indian Dermatology Online Journal” The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
1 citations
,
January 2009 in “The Open Dermatology Journal” Chemotherapy caused nail grooves and separation, but they healed after treatment stopped.
11 citations
,
January 2010 in “Journal of oral and maxillofacial surgery” May 2020 in “International journal of dermatology and venereology” Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
5 citations
,
September 2009 in “Acta Ophthalmologica” Hyper-keratinisation in Meibomian glands contributes to gland dysfunction.
33 citations
,
December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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.
61 citations
,
August 1993 in “PubMed” Basal cell epithelioma likely starts from the hair follicle's outer root sheath.
12 citations
,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
15 citations
,
May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
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.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
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.
9 citations
,
January 2002 in “Dermatology” Reduced CD44 expression may cause abnormal hyaluronate buildup in cutaneous myxoma.
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.
10 citations
,
March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
March 2023 in “Journal of Veterinary Medicine and Animal Health” The fly larvae infestation caused severe skin damage and health issues in Kenyan dogs.
September 1978 in “PubMed” Chondroitin sulphate is more abundant than hyaluronic acid in skin and hair samples, except in gamma-keratosis.
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.
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
April 2018 in “Journal of Investigative Dermatology” The keratin network in mouse skin changes during cornification and affects the skin's protective barrier.