18 citations
,
February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
7 citations
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January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
69 citations
,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
July 2022 in “European Journal of Dermatology” Brodalumab is more effective than ustekinumab in treating psoriasis.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
10 citations
,
January 2016 in “Dermatology” People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
9 citations
,
January 2011 in “American Journal of Dermatopathology” Pilomatrixoma involves abnormal hair keratin production and cell death, causing debris and cysts.
June 2026 in “Indian Dermatology Online Journal” A supernumerary nipple was correctly identified using dermoscopy, avoiding misdiagnosis.
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.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
20 citations
,
November 2004 in “Archives of Pathology & Laboratory Medicine” A rare benign skin growth called melanocytic matricoma was identified in a 69-year-old man.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” The condition is harmless, doesn't worsen, and needs no invasive treatment.
November 2013 in “John Wiley & Sons, Ltd eBooks” Skin symptoms can indicate endocrine disorders and have various treatments.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
April 2026 in “Development” Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
November 2024 in “Journal of Investigative Dermatology” 1 citations
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November 2010 in “Pediatric dermatology” An 11-month-old girl has no scalp or body hair, and the cause is being studied.
A woman with a rare hair loss condition developed skin cancer in the bald area.
5 citations
,
December 1964 in “Australasian journal of dermatology” Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
15 citations
,
April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
54 citations
,
December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
26 citations
,
April 2007 in “Journal of clinical oncology”
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.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
12 citations
,
March 2013 Minoxidil cream can safely treat hair loss in kids with ectodermal dysplasia.