A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
51 citations
,
February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
11 citations
,
June 2015 in “Scientific Reports” The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
2 citations
,
May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
January 1994 in “Journal of Dermatological Treatment” Spironolactone helped reduce excessive facial hair in a woman with porphyria cutanea tarda.
68 citations
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December 1983 in “British Journal of Dermatology” Major histocompatibility antigens are found in specific skin cells and structures, but not in sweat glands.
1 citations
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July 2024 in “International Journal of Biological Research” Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
17 citations
,
June 2016 in “Croatian Medical Journal” Patients with chronic graft-versus-host disease often have skin problems like vitiligo and alopecia areata.
1 citations
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February 2023 in “Pediatric Dermatology” Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
People with chronic hives should be tested for thyroid autoimmunity to manage their condition better.
April 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain surgical methods are better than routine incision for hidradenitis suppurativa, topical clindamycin and acitretin are effective treatments, men with HS have a risk of skin cancer, HS patients are more likely to die from heart problems, and specific genetic markers are linked to treatment response.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
3 citations
,
August 1988 in “PubMed” 39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Hidradenitis suppurativa tunnels have different microenvironments, suggesting targeted treatments could be more effective.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Hidradenitis suppurativa tunnels have different microenvironments, suggesting targeted treatments could be more effective.
February 2025 in “American Journal of Medical Case Reports” A rare skin cancer was correctly diagnosed after surgery, highlighting the need for careful examination and follow-up.
20 citations
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October 2005 in “Archives of Dermatological Research” 61 citations
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April 2021 in “Frontiers in Medicine” Hidradenitis suppurativa severely impacts quality of life, especially with severe symptoms and certain comorbidities, and current treatments don't significantly improve it.
2 citations
,
June 2012 in “American Journal of Dermatopathology” A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.