October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
7 citations
,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
2 citations
,
July 2022 in “Frontiers in Veterinary Science” A female dog with mixed male and female traits was treated successfully with surgery.
1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
249 citations
,
May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
1 citations
,
January 2014 in “International Journal of Trichology” A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
1 citations
,
October 2021 in “Australasian Journal of Dermatology” The document's conclusion cannot be provided because the document is not available or cannot be understood.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
41 citations
,
December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
April 2024 in “Journal of Cytology” A rare skin tumor with bone formation was successfully removed without recurrence.
24 citations
,
June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
1 citations
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October 2023 in “BMC oral health” Two patients treated with TAC for mouth fibrosis improved but developed Cushing's Syndrome symptoms.
12 citations
,
March 2013 Minoxidil cream can safely treat hair loss in kids with ectodermal dysplasia.
26 citations
,
October 2007 in “American Journal of Dermatopathology” Basal cell carcinoma with matrical differentiation is a rare type linked to hair follicles, with .-catenin important for its development.
January 2026 in “Clinical Case Reports” A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
4 citations
,
March 2003 in “International Journal of Dermatology” Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
170 citations
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May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
1 citations
,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
March 2021 in “Annals of King Edward Medical University” Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
June 2008 in “The Knowledge Bank (The Ohio State University)” Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
17 citations
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September 2000 in “Journal of dermatology” A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.