20 citations
,
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.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
2 citations
,
January 2012 in “PubMed” A gluten-free diet and surgery fixed the girl's calcium levels and started puberty.
2 citations
,
August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
August 2023 in “Journal of the European Academy of Dermatology and Venereology” Onycholemmal horn is a rare nail tumor in elderly women, treated by surgical removal.
November 2022 in “Journal of the Endocrine Society” Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
20 citations
,
January 2012 in “Indian Journal of Endocrinology and Metabolism” Most patients with acquired hypoparathyroidism after neck surgery had hair, nail, and skin issues.
1 citations
,
December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
2 citations
,
June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
82 citations
,
October 1980 in “The Journal of Clinical Endocrinology & Metabolism” The child's body didn't respond well to vitamin D, causing hair loss and rickets.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
35 citations
,
September 2004 in “American Journal of Dermatopathology” A rare nail bed cancer was successfully treated with no recurrence after 4 years.
5 citations
,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
1 citations
,
January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” Monilethrix causes brittle hair and hair loss, and it runs in families.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
2 citations
,
January 2022 in “Boletín médico del Hospital infantil de México/Boletín médico del Hospital Infantil de México” Some immunosuppressed patients can get unusual skin infections from Malassezia, which can be treated with antifungal medication.
5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
20 citations
,
February 2018 in “Journal of the European Academy of Dermatology and Venereology” Topical vitamin C may help treat skin fragility in the elderly.
5 citations
,
October 2003 in “PubMed” Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
1 citations
,
January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
20 citations
,
January 2005 in “Australasian Journal of Dermatology” A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
1 citations
,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
5 citations
,
February 2015 in “Egyptian Journal of Ear Nose Throat and Allied Sciences” A rare benign cheek tumor was successfully removed from a 15-year-old girl without complications or recurrence.
1 citations
,
January 2010 in “Elsevier eBooks” Testosterone therapy may help men with osteoporosis.
6 citations
,
March 2016 in “PLoS ONE” The patient's hair was thinner and had fewer lipids due to a genetic mutation.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
18 citations
,
January 2004 in “Dermatologic Clinics” Skin problems in older people can indicate hormonal diseases, nutritional deficiencies, or conditions like diabetes, menopause, and HIV.
2 citations
,
August 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.