84 citations
,
March 2002 in “The Journal of Dermatology” Steatocystoma multiplex is a skin condition starting around age 26, linked to hair follicles, and related to eruptive vellus hair cysts.
2 citations
,
January 2004 in “Elsevier eBooks” Lupus affects the skin in various ways, and proper skin examination is crucial for diagnosis and treatment.
The man had myotonia, which caused delayed hand grip relaxation.
1 citations
,
January 2022 in “Springer eBooks” 2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
August 2018 in “Journal of The American Academy of Dermatology” A 16-year-old girl's skin rash was likely caused by an infection and improved with topical steroids.
12 citations
,
January 2013 in “Indian Journal of Dermatology” Monilethrix is a rare genetic hair disorder that's hard to treat.
5 citations
,
July 2014 in “Respirology Case Reports” A woman with Castleman's disease died from respiratory failure due to bronchiolitis obliterans.
32 citations
,
January 2007 in “KARGER eBooks” Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
15 citations
,
March 2024 in “Journal of Clinical Medicine” Selumetinib causes skin and hair side effects in kids with NF1, affecting treatment and quality of life.
33 citations
,
October 2017 in “Drug Safety” SJS/TEN survivors often have severe, overlooked long-term physical problems that are not properly treated after leaving the hospital.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
October 2023 in “CHEST Journal” Early recognition and treatment of severe SLE symptoms can improve outcomes.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
2 citations
,
July 2025 in “RMD Open” IL-1 blockade is effective for treating SURF, and personalized treatment is needed.
16 citations
,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
March 2021 in “Revista da Associação Médica Brasileira”
1 citations
,
April 2018 in “Rheumatology” Many lupus patients experience hair loss, which is linked to anxiety and other skin issues.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
22 citations
,
March 2017 in “Transplant Infectious Disease” Leflunomide successfully treated a rare skin condition in a liver transplant patient.
4 citations
,
October 2019 in “Case Reports” A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
12 citations
,
June 2009 in “Journal of Cosmetic Dermatology” Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
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.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
8 citations
,
January 2019 in “JAAD Case Reports” EPDS can cause recurring scalp sores and hair loss if not treated.
3 citations
,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.