15 citations
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August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
8 citations
,
February 2006 in “Canadian Medical Association Journal” A woman with lupus and antiphospholipid syndrome had bone damage, showing the need for careful treatment.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
2 citations
,
October 1985 in “Pediatrics in review” Scalp diseases change with age and can be hard to tell apart from hair disorders.
3 citations
,
April 2015 in “Cleveland Clinic Journal of Medicine” The woman has scurvy and needs more vitamin C.
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.
1 citations
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August 2018 in “Journal of the American Academy of Dermatology” December 2024 in “Clinical and Experimental Dermatology” Patients with central centrifugal cicatricial alopecia benefit from shared decision-making with their doctors.
October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
September 2014 in “Journal der Deutschen Dermatologischen Gesellschaft” Diabetes can cause a variety of skin disorders, some of which may signal more serious health issues.
November 2024 in “Elsevier eBooks” November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
15 citations
,
November 2009 in “Journal of diabetes and its complications” Patients with Type 1 diabetes should be screened for pernicious anemia.
5 citations
,
January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
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.
January 2022 in “Faculty of 1000 Research Ltd” Digital gangrene can be an early sign of late-onset systemic lupus erythematosus.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
Dissecting cellulitis of the scalp mainly affects Black males and requires early diagnosis and management.
54 citations
,
February 2012 in “Pediatrics in Review” Pediatric systemic lupus erythematosus is a severe autoimmune disease in children requiring early diagnosis and comprehensive management.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
November 2012 in “The Journal for Nurse Practitioners” Systemic lupus erythematosus is a complex autoimmune disease mainly affecting women, with varied symptoms and unknown exact cause.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
31 citations
,
September 2003 in “International Journal of Dermatology” Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.