January 2025 in “Clinical Pediatric Endocrinology” Calcium supplements improved bone deformities but not skin papules or hair loss.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
August 2018 in “Journal of The American Academy of Dermatology” Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
April 2024 in “Research Square (Research Square)” A 27-year-old with APS-1 showed improvement in symptoms after treatment.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
10 citations
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January 2011 in “Annals of Dermatology” A rare scalp tumor involving two hair follicles was successfully removed with surgery, with no recurrence after 7 months.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
March 2024 in “Veterinary sciences” Geriatric Julia Creek dunnarts often suffer from reproductive and skin diseases, impacting conservation efforts.
November 2023 in “International Journal of Trichology” Alopecia areata may be linked to kidney issues, but more research is needed.
13 citations
,
September 1997 in “Archives of Dermatology” The boy likely has a fungal infection causing hair loss.
9 citations
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January 1997 in “Endocrine Journal” Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
1 citations
,
September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
17 citations
,
January 1998 in “Neurourology and Urodynamics” Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
2 citations
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November 2019 in “BMC urology” The junction of the inner and outer prepuce with good blood flow is ideal for surgical flaps.
January 2018 in “Springer eBooks” Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
48 citations
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
10 citations
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July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.