5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
2 citations
,
August 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
17 citations
,
January 2014 in “Stem Cells Translational Medicine” Canine epidermal neural crest stem cells could be a promising treatment for spinal cord injuries in dogs.
November 2013 in “John Wiley & Sons, Ltd eBooks” Skin symptoms can indicate endocrine disorders and have various treatments.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
15 citations
,
February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
July 2022 in “Dermatology Reports” A rare scalp condition called Erosive pustular dermatosis is hard to diagnose and treat.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
5 citations
,
January 2017 in “Molecular Medicine Reports” Human hair follicle cells can be turned into neural stem cell-like cells, which might help treat brain diseases.
49 citations
,
January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
1 citations
,
March 2024 in “Pediatric Dermatology” Neonatal nasal injuries can heal with basic care but often leave scars.
44 citations
,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
15 citations
,
October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
4 citations
,
April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
April 2018 in “Journal of Investigative Dermatology” NDRG1 protein helps infantile hemangioma, a common infant tumor, to grow, and its mismanagement by FOXO1 protein plays a big role in causing the tumor.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
1 citations
,
October 2019 in “International journal of contemporary pediatrics” A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
10 citations
,
May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
22 citations
,
June 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
54 citations
,
June 2001 in “The Indian Journal of Pediatrics” Lower hair zinc levels may be linked to Neural Tube Defects.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.