Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
22 citations
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June 1993 in “Calcified Tissue International” Women with hyperandrogenic amenorrhea have similar bone density to healthy women but lower than androgenized women without amenorrhea, and high DHEAS levels might affect bone density.
November 2024 in “Journal of Clinical Medicine” The treatment improved hair thickness, shine, and reduced hair loss effectively.
52 citations
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October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
11 citations
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March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
36 citations
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December 2014 in “F1000 prime reports” The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.
42 citations
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October 2004 in “Experimental and Clinical Endocrinology & Diabetes” The main cause of excessive hair growth in Turkish women is Polycystic ovary syndrome, but in about one fifth of cases, the reason for high male hormone levels is unknown.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
1 citations
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March 2023 in “Medicine” Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
June 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” Trace element deficiencies may contribute to diffuse alopecia.
18 citations
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January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
33 citations
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November 1999 in “The Veterinary clinics of North America. Small animal practice/Veterinary clinics of North America. Small animal practice” Dogs with zinc-responsive dermatosis need zinc supplements or dietary changes for treatment.
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.
Early recognition and aggressive treatment can significantly improve rare ANA-negative lupus with heart and skin issues.
117 citations
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May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
5 citations
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February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
Defective nuclear transport may cause gene expression changes in Progeria.
April 2025 in “Dermatology Practical & Conceptual” UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
1 citations
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April 2007 in “The FASEB Journal” Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
4 citations
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August 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.
8 citations
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December 2016 in “Hormone Research in Paediatrics” Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
5 citations
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May 2007 in “Pediatric Dermatology” Severe hypothyroidism can cause unusual skin problems that improve with thyroid treatment.
2 citations
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July 2024 in “Journal of the American Academy of Dermatology” Elderly patients have more severe hidradenitis suppurativa and may need different treatments.