September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
23 citations
,
December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
30 citations
,
October 1994 in “Journal of Cutaneous Pathology” Multiple perifollicular fibromas may actually be unrecognized cases of Birt-Hogg-Dubé syndrome.
41 citations
,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
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.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
3 citations
,
January 2022 in “Medical Mycology Journal” Malassezia fungi in healthy noses can form a "spaghetti-and-meatballs" structure.
97 citations
,
September 2016 in “Reviews in Endocrine and Metabolic Disorders” The sebaceous gland has more roles than just producing sebum and contributing to acne, and new research could lead to better skin disease treatments.
66 citations
,
September 2008 in “The Journal of Dermatology” Gastrointestinal issues are important risk factors for sebaceous gland diseases in Han adolescents.
2 citations
,
January 2023 in “Brazilian Journal of Development” Illegal wildlife captivity poses health risks and highlights the need for conservation and public health awareness.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
22 citations
,
December 2003 in “Veterinary clinical pathology” The Persian cat has a skin infection caused by a fungus, treatable with antifungal medication.
11 citations
,
January 2005 in “Brazilian Journal of Medical and Biological Research” Hairless USP mice have enlarged skin cysts as they age.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing Lrig1-positive stem cells in mice causes temporary loss of sebaceous glands.
19 citations
,
January 2011 in “International journal of trichology” A 3-year-old boy had a rare hairball condition usually seen in teenage girls.
289 citations
,
May 2003 in “Journal of Investigative Dermatology” Human skin can produce steroids from cholesterol.
33 citations
,
September 1987 in “American Journal of Medical Genetics” Uncombable hair is inherited dominantly with complete penetrance.
20 citations
,
January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
August 2023 in “Gastroenterology” A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
15 citations
,
November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
3 citations
,
May 2013 in “Pediatric Dermatology” A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
5 citations
,
March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
5 citations
,
January 2011 in “Journal of the Korean Association of Oral and Maxillofacial Surgeons” A woman developed a cyst in her parotid gland after a botox injection, which was successfully removed with surgery.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
8 citations
,
September 1987 in “Acta Dermato Venereologica” Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
8 citations
,
April 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The first pediatric case of naevus trichilemmocysticus was documented.