August 1969 in “Archives of Dermatology” After calciphylaxis, rats showed incomplete skin and hair regeneration, resembling scar tissue with fewer hairs.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
478 citations
,
September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
39 citations
,
March 1997 in “The Lancet” Acquired perforating dermatosis often affects skin in people with kidney issues and diabetes.
September 2016 in “Archives of Pediatric Infectious Diseases” A young girl developed serious bone inflammation in her skull after a skin graft, which is a rare but severe condition.
28 citations
,
June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
October 2018 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
March 2026 in “Dermatology Online Journal” Cystic panfolliculoma is a rare, harmless tumor that can be confused with other skin tumors.
56 citations
,
April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
December 2009 in “Pediatrics in review” A girl with Crohn's disease had a hairball causing bowel obstruction, which was removed, and she recovered well.
15 citations
,
December 2009 in “PubMed” A child with eruptive vellus hair cysts showed some improvement with calcipotriene cream.
April 2017 in “The Journal of urology/The journal of urology” Finasteride use is linked to a lower risk of bladder cancer, especially in Caucasians and Hispanics.
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
16 citations
,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
February 2026 in “International Journal of Clinical Dermatology” A multi-drug treatment can effectively clear extensive calcinosis in juvenile dermatomyositis.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
82 citations
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April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
October 2025 in “Dermatology Practical & Conceptual” Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.
5 citations
,
August 2014 in “Archivos Argentinos de Pediatria” A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
39 citations
,
July 2000 in “British Journal of Dermatology” Identical twins both had a rare hair loss condition, suggesting it might be genetic.
27 citations
,
June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
36 citations
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July 1988 in “Archives of Dermatological Research” Pili annulati is caused by a protein metabolism disorder affecting hair structure.
September 2017 in “Dermatologic Surgery”