December 2025 in “IP Indian Journal of Clinical and Experimental Dermatology” Hair shaft disorders often indicate genetic or systemic issues and are managed by minimizing damage.
29 citations
,
January 2002 in “Biological Trace Element Research”
16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
January 2025 in “The International Journal of Gastroenterology and Hepatology Diseases” Vitamin B12 is crucial for hair and nerve health, and its malabsorption can cause hair loss and nerve damage.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
1 citations
,
January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
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.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
11 citations
,
December 2015 in “Indian journal of dermatology, venereology, and leprology” Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
1 citations
,
January 2015 in “Advanced techniques in biology & medicine” Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
28 citations
,
September 2013 in “Biogerontology” 34 citations
,
June 1992 in “Journal of Cutaneous Pathology” Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
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.
1 citations
,
August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
January 2023 in “Journal of Veterinary and Animal Sciences” Dogs with skin lesions often have blood abnormalities and damaged hair.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
55 citations
,
May 2007 in “Australasian journal of dermatology” Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
694 citations
,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
48 citations
,
June 2014 in “Neurobiology of Disease” The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
2 citations
,
July 2022 in “Dermatology Reports” EPDS and MS might share an immune-related cause.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
12 citations
,
March 1981 in “International Journal of Dermatology” External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
11 citations
,
December 1990 in “British Journal of Dermatology” Alopecia areata may involve disrupted mesenchymal function in hair follicles.
51 citations
,
May 1984 in “Journal of the American Academy of Dermatology” Benign follicular mucinosis involves immune cells attacking hair follicles.
June 2025 in “British Journal of Dermatology” Consider amyloidosis in patients with specific nail changes and check for systemic issues.
10 citations
,
August 2016 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Vitiligo patients often have nail problems, so checking their nails is important.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.