17 citations
,
November 1967 in “American Journal of Anatomy” Hairless mice have longer hair follicles and abnormal structures during the catagen phase.
2 citations
,
August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
April 2026 in “Development” Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
33 citations
,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
5 citations
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November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
Mutations in the hairless protein gene cause hair loss.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
November 2024 in “Elsevier eBooks” A white-tailed deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
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.
18 citations
,
June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
1 citations
,
June 2023 in “Medicina” People with Epidermolysis bullosa have many health problems including poor oral health, which is often neglected due to other medical issues.
20 citations
,
December 2019 in “International Journal of Molecular Sciences” HB-EGF boosts the hair growth ability of stem cells, making it a potential hair loss treatment.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
128 citations
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March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
January 2015 in “International Journal of Clinical & Medical Imaging” Recognizing erosive pustular dermatosis of the scalp is crucial to avoid misdiagnosis.
3 citations
,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
November 2025 in “Вопросы современной педиатрии” Treating Netherton syndrome with growth hormone and dupilumab improves growth safely.
4 citations
,
March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
6 citations
,
April 1993 in “Journal of the Royal Society of Medicine” Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.
3 citations
,
January 2021 in “Veterinary dermatology” A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
2 citations
,
July 2022 in “Dermatology Reports” EPDS and MS might share an immune-related cause.
11 citations
,
May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
January 2018 in “Indian Dermatology Online Journal” DM and AA may share a common cause.
May 2025 in “Proceedings of the National Academy of Sciences” UTX is crucial for skin differentiation and health, especially in females.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.